DCTN1 - dynactin subunit 1 Gene

Homo sapiens

Also known as P135; DP-150; DAP-150

Gene ID: 1639 | Gene type: protein coding

About DCTN1

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,361,155-74,391,866 (from NCBI)

This gene has 28 transcripts (splice variants), 268 orthologues, 4 paralogues and is associated with 73 phenotypes. Ubiquitous expression in brain (RPKM 71.1), testis (RPKM 43.6) and 25 other tissues.

Summary

This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]

DCTN1 Products(8)

mRNA	Protein	Name
NM_001135040.3	NP_001128512.1	dynactin subunit 1 isoform 3
NM_001135041.3	NP_001128513.1	dynactin subunit 1 isoform 4
NM_001190836.2	NP_001177765.1	dynactin subunit 1 isoform 5
NM_001190837.2	NP_001177766.1	dynactin subunit 1 isoform 6
NM_001378991.1	NP_001365920.1	dynactin subunit 1 isoform 7
NM_001378992.1	NP_001365921.1	dynactin subunit 1 isoform 8
NM_004082.5	NP_004073.2	dynactin subunit 1 isoform 1
NM_023019.4	NP_075408.1	dynactin subunit 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables microtubule binding	IDA IDA: Inferred from direct assay	23874158	GOA
enables microtubule binding	IMP IMP: Inferred from mutant phenotype	16505168	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9361024	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	17139249	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	23874158	GOA

Biological Process GO Annotation	Evidence	Reference	Source
NOT involved in axonal transport	IMP IMP: Inferred from mutant phenotype	18364389	GOA
involved in centriole-centriole cohesion	IMP IMP: Inferred from mutant phenotype	23386061	GOA
involved in establishment of mitotic spindle orientation	IMP IMP: Inferred from mutant phenotype	22327364	GOA
involved in microtubule anchoring at centrosome	IMP IMP: Inferred from mutant phenotype	23386061	GOA
involved in motor behavior	IMP IMP: Inferred from mutant phenotype	18305234	GOA
involved in neuromuscular junction development	IMP IMP: Inferred from mutant phenotype	18305234	GOA
involved in neuromuscular process	IMP IMP: Inferred from mutant phenotype	18305234	GOA
involved in neuron cellular homeostasis	IMP IMP: Inferred from mutant phenotype	18305234	GOA
involved in neuron projection maintenance	IMP IMP: Inferred from mutant phenotype	18305234	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	25774020	GOA
involved in nuclear membrane disassembly	IMP IMP: Inferred from mutant phenotype	20679239	GOA
involved in positive regulation of microtubule nucleation	IDA IDA: Inferred from direct assay	23874158	GOA
involved in positive regulation of microtubule polymerization	IDA IDA: Inferred from direct assay	23874158	GOA
involved in positive regulation of microtubule polymerization	IMP IMP: Inferred from mutant phenotype	16505168	GOA
involved in positive regulation of neuromuscular junction development	IMP IMP: Inferred from mutant phenotype	18364389	GOA
involved in regulation of mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	23027904	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	19619496	GOA
involved in ventral spinal cord development	IMP IMP: Inferred from mutant phenotype	18305234	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with cell cortex	IDA IDA: Inferred from direct assay	23509069	GOA
located in cell cortex	IDA IDA: Inferred from direct assay	23027904	GOA
located in cell cortex region	IDA IDA: Inferred from direct assay	22327364	GOA
part of centriolar subdistal appendage	IDA IDA: Inferred from direct assay	23213374	GOA
located in centriole	IDA IDA: Inferred from direct assay	23213374	GOA
located in centrosome	IDA IDA: Inferred from direct assay	20719959	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18305234	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	19468067	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
part of microtubule associated complex	IMP IMP: Inferred from mutant phenotype	16505168	GOA
located in microtubule plus-end	IDA IDA: Inferred from direct assay	26972003	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	18364389	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	18364389	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	20679239	GOA
part of retromer complex	IDA IDA: Inferred from direct assay	19619496	GOA
located in spindle	IDA IDA: Inferred from direct assay	25774020	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	14718566	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DCTN1 Protein Structure

CAP_GLY

Dynactin

0
200
400
600
800
1000
1200
1278 a.a.

Protein Preferred Names

Protein Names

dynactin subunit 1

150 kDa dynein-associated polypeptide

DCTN1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DCTN1	Q14203	MAPRE1	Homo sapiens	Q15691	ITC	17828277
Intra	DCTN1	Q14203	MAPRE1	Homo sapiens	Q15691	BioID	26638075
Intra	DCTN1	Q14203	BBS4	Homo sapiens	Q96RK4	Y2H	18000879
Intra	DCTN1	Q14203	BBS4	Homo sapiens	Q96RK4	Y2H	15107855
Intra	DCTN1	Q14203	MAPT	Homo sapiens	P10636-8	Pull Down	17932487
Intra	DCTN1	Q14203	MAPT	Homo sapiens	P10636-8	Anti Bait CoIP	17932487
Intra	DCTN1	Q14203	MAPT	Homo sapiens	P10636-8	Y2H	17932487
Intra	DCTN1	Q14203	MAPT	Homo sapiens	P10636-8	IF	17932487
Intra	DCTN1	Q14203	ACTR1B	Homo sapiens	P42025	Anti Tag CoIP	33961781
Intra	DCTN1	Q14203	ACTR1B	Homo sapiens	P42025	BioID	26638075
Intra	DCTN1	Q14203	SNX6	Homo sapiens	Q9UNH7	Anti Bait CoIP	23524952
Intra	DCTN1	Q14203	CLIP1	Homo sapiens	P30622-1	SLS	17828277
Intra	DCTN1	Q14203	CLIP1	Homo sapiens	P30622-1	X-Ray Diffraction	17828277
Intra	DCTN1	Q14203	CLIP1	Homo sapiens	P30622-1	ITC	17828277
Intra	DCTN1	Q14203	CLIP1	Homo sapiens	P30622-1	GMS	17828277
Cross	DCTN1	Q14203	Hap1	Rattus norvegicus	P54256	Pull Down	9361024

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DCTN1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71542	DCTN1 Protein, Human (His-SUMO)	Q14203 (213P-547Q)	≥95%

Related Diseases

Diseases

Alias

Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B	Hmn Viib
Dhmn7b	Neuropathy, Distal Hereditary Motor, Type Viib
Distal Hereditary Motor Neuronopathy Type 7b	Distal Hereditary Motor Neuropathy Type Viib
Neuronopathy, Distal Hereditary Motor, Type 7b	Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
Lower Motor Neuron Disease, Dynactin Type	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
Harper-Young Myopathy	Neuronopathy, Distal Hereditary Motor, 7b
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib	Lower Motor Neuron Disease Dynactin Type
Plmnd	Progressive Lower Motor Neuron Disease
Neuropathy, Motor, Distal, Hereditary, Type Viib

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Distal Hereditary Motor Neuropathy Type 7

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Dhmn7

Genetic Motor Neuron Disease

Genetic Anterior Horn Cell Disease

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7	Dhmnvpy
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Dctn1-Related Neurodegeneration

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Mental Depression

Depression

Depressive Disorder

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Lateral Sclerosis

Primary Lateral Sclerosis	Adult-Onset Primary Lateral Sclerosis
Adult-Onset Pls	Motor Neuron Disease
Pls	Pls - [Primary Lateral Sclerosis]
Lateral Spinal Sclerosis	Lateral Complete Paralysis
Lateral Incomplete Paralysis	Lateral Paralysis

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy	Autosomal Dominant Dhmn
Autosomal Dominant Distal Spinal Muscular Atrophy

Epithelioid Inflammatory Myofibroblastic Sarcoma

Motor Peripheral Neuropathy

Motor Neuritis	Peripheral Motor Neuropathy
Hereditary Motor And Sensory Neuropathy	Hsmn
Hsmn - Hereditary Sensory And Motor Neuropathy	Neuropathic Muscular Atrophy
Hereditary Sensory And Motor Neuropathy	Hereditary Motor And Sensory Neuropathies

Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C	Hsan Ic
Hsn1c	Hsn Ic
Hereditary Sensory And Autonomic Neuropathy Type 1c	Neuropathy, Hereditary Sensory And Autonomic, Type 1c
Neuropathy, Hereditary Sensory, Type Ic	Hereditary Sensory And Autonomic Neuropathy Type Ic
Neuropathy, Hereditary Sensory And Autonomic, 1c	Hereditary Sensory Neuropathy Type Ic
Neuropathy, Hereditary Sensory/Autonomic, Type Ic	Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2	Hsan2
HSAN2A	Morvan Disease
Hereditary Sensory And Autonomic Neuropathy Type Ii	Neurogenic Acroosteolysis
Hsan Iia	Hsn2a
Hsn Iia	Neuropathy, Progressive Sensory, Of Children
Neuropathy, Congenital Sensory	Neuropathy, Hereditary Sensory And Autonomic, Type Ii
Hereditary Sensory And Autonomic Neuropathy Type 2a	Hereditary Sensory And Autonomic Neuropathy Type Iia
Hsanii	Congenital Sensory Neuropathy
Hsan Type Ii	Morvan Syndrome
Neuropathy, Hereditary Sensory And Autonomic, Type 2a	Morvan'S Disease
Neuropathy, Hereditary Sensory, Type Iia	Acroosteolysis, Neurogenic
Acroosteolysis, Giaccai Type	Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
Hereditary Sensory Autonomic Neuropathy Type 2	Giaccai Type Acroosteolysis
Hereditary Sensory Neuropathy Type 2	Hereditary Sensory Radicular Neuropathy, Recessive Form
Hsan2b	Hsan2c
Hsan2d	Hsn Type Ii
Autosomal Recessive Sensory Radicular Neuropathy	Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
Morvan Fibrillary Chorea	Neuropathy, Hereditary Sensory And Autonomic, 2a
Acroosteolysis Giaccai Type	Hereditary Sensory Neuropathy Type Iia
Hereditary Sensory Radicular Neuropathy Autosomal Recessive	Progressive Sensory Neuropathy Of Children
Neuropathy Congenital Sensory	Charcot-Marie-Tooth Disease
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia	Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii	Sensory Neuropathy, Hereditary
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease	Sbma
Spinal And Bulbar Muscular Atrophy	Kennedy'S Disease
X-Linked Spinal And Bulbar Muscular Atrophy	SMAX1
Kd	Kennedy Spinal And Bulbar Muscular Atrophy
Spinobulbar Muscular Atrophy	Bulbospinal Muscular Atrophy, X-Linked
Bulbospinal Neuronopathy, X-Linked Recessive	Xbsn
Spinal And Bulbar Muscular Atrophy Of Kennedy	Bulbospinal Muscular Atrophy
X-Linked Bulbospinal Amyotrophy	Bulbo-Spinal Atrophy, X-Linked
Spinal Bulbar Muscular Atrophy	X-Linked Bulbo-Spinal Atrophy
X-Linked Spinal Bulbar Muscular Atrophy	X-Linked Bsma
X-Linked Bulbospinal Muscular Atrophy	Spinal And Bulbar Muscular Atrophy X-Linked 1
Bulbospinal Muscular Atrophy X-Linked	Bulbospinal Neuronopathy X-Linked Recessive
Kennedy Disease)	Kennedy Syndrome
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type	Atrophy, Muscular, Spinobulbar
Bulbospinal Neuronopathy

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy	Steele-Richardson-Olszewski Syndrome
Supranuclear Palsy, Progressive	Progressive Supranuclear Ophthalmoplegia
Psp	PSNP1
Familial Progressive Supranuclear Palsy	Richardson'S Syndrome
Psp Syndrome	Progressive Supranuclear Palsy 1
Supranuclear Palsy Progressive	Ophthalmoplegia, Supranuclear, Progressive
Steele-Richardson-Olszewksi Syndrome

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Movement Disease

Movement Disorders

Movement Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03593	DCTN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DCTN1	VGNC	VGNC:27928
Mus musculus	DCTN1	MGD	MGI:107745
Canis familiaris	DCTN1	VGNC	VGNC:39816
Macaca mulatta	DCTN1	VGNC	VGNC:101478
Felis catus	DCTN1	VGNC	VGNC:101456
Rattus norvegicus	DCTN1	RGD	RGD:62038
Others	DCTN1	NCBI