STXBP1 - syntaxin binding protein 1 Gene

Homo sapiens

Also known as P67; DEE4; NSEC1; UNC18; N-Sec1; RBSEC1; unc-18A; unc18-1; MUNC18-1

Gene ID: 6812 | Gene type: protein coding

About STXBP1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:127,611,912-127,696,029 (from NCBI)

This gene has 25 transcripts (splice variants), 286 orthologues, 7 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 151.7), adrenal (RPKM 16.3) and 6 other tissues.

Summary

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

STXBP1 Products(12)

mRNA	Protein	Name
NM_001032221.6	NP_001027392.1	syntaxin-binding protein 1 isoform b
NM_001374306.2	NP_001361235.1	syntaxin-binding protein 1 isoform c
NM_001374307.2	NP_001361236.1	syntaxin-binding protein 1 isoform d
NM_001374308.2	NP_001361237.1	syntaxin-binding protein 1 isoform d
NM_001374309.2	NP_001361238.1	syntaxin-binding protein 1 isoform e
NM_001374310.2	NP_001361239.1	syntaxin-binding protein 1 isoform e
NM_001374311.2	NP_001361240.1	syntaxin-binding protein 1 isoform e
NM_001374312.2	NP_001361241.1	syntaxin-binding protein 1 isoform e
NM_001374313.2	NP_001361242.1	syntaxin-binding protein 1 isoform f
NM_001374314.1	NP_001361243.1	syntaxin-binding protein 1 isoform g
NM_001374315.2	NP_001361244.1	syntaxin-binding protein 1 isoform h
NM_003165.6	NP_003156.1	syntaxin-binding protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16049941	GOA
enables syntaxin binding	IPI IPI: Inferred from physical interaction	12773094	GOA
enables syntaxin-1 binding	IPI IPI: Inferred from physical interaction	12730201	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in SNARE complex assembly	IMP IMP: Inferred from mutant phenotype	23091057	GOA
involved in platelet aggregation	IMP IMP: Inferred from mutant phenotype	12773094	GOA
involved in platelet degranulation	IMP IMP: Inferred from mutant phenotype	12773094	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	17543282	GOA
involved in regulation of acrosomal vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	23091057	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	12773094	GOA
located in platelet alpha granule	IDA IDA: Inferred from direct assay	12773094	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

STXBP1 Protein Structure

Sec1

0
100
200
300
400
500
594 a.a.

Protein Preferred Names

Protein Names

syntaxin-binding protein 1

neuronal SEC1

Recombinant STXBP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77092	Syntaxin-BP1 Protein, Human (sf9, His-GST)	P61764 (M1-S594)	≥95%

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 4

DEE4	Epileptic Encephalopathy, Early Infantile, 4
Eiee4	Early Infantile Epileptic Encephalopathy 4
Stxbp1-Related Early-Onset Encephalopathy	Early Myoclonic Encephalopathy
Developmental And Epileptic Encephalopathy, 4	Stxbp1 Disorders
Stxbp1 Encephalopathy	Developmental And Epileptic Encephalopathy, Type 4
Early-Infantile Epileptic Encephalopathy 4	Stxbp1 Encephalopathy With Epilepsy
Stxbp1 Epileptic Encephalopathy	Stxbp1-Related Developmental And Epileptic Encephalopathy
Stxbp1-Related Epileptic Encephalopathy	Eme
Neonatal Epilepsy With Suppression-Burst Pattern	Encephalopathy, Epileptic, Early Infantile, Type 4

Ohtahara Syndrome

Infantile Epilepsy Syndrome

Infantile Epilepsy

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Stxbp1-Related Encephalopathy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Spastic Ataxia

Spax	Ataxia, Spastic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Spasticity

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

9q33.3q34.11 Microdeletion Syndrome

Del(9)(Q33.3q34.11)	Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Bruxism

Sleep Bruxism	Sleep-Related Bruxism
Bruxism - Teeth Grinding	Grinding Teeth
Sleep Related Bruxism	Teeth Grinding
Sleep Related Teeth Grinding

Infancy Electroclinical Syndrome

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Neonatal Period Electroclinical Syndrome

Childhood Electroclinical Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy	PDE
Pyridoxine Dependency With Seizures	Vitamin B6-Dependent Seizures
EPD	Aasa Dehydrogenase Deficiency
Antiquitin Deficiency	Pyridoxine Dependency
Glutamate Decarboxylase Deficiency	Pyridoxine-Dependent Seizures
Deficiency Of Glutamate Decarboxylase

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2	DEE2
Eiee2	Issx2
Developmental And Epileptic Encephalopathy, 2	Infantile Spasm Syndrome, X-Linked 2
Early Infantile Epileptic Encephalopathy 2	X-Linked Infantile Spasm Syndrome 2
Atypical Rett Syndrome Cdkl5-Related	Atypical Rett Syndrome Hanefeld Variant
Infantile Spasm Syndrome X-Linked 2	Rett Syndrome Early-Onset Seizure Variant
Rett Syndrome Variant With Infantile Spasms	Encephalopathy, Epileptic, Early Infantile, Type 2

Ceroid Lipofuscinosis, Neuronal, 5

Neuronal Ceroid Lipofuscinosis 5	CLN5
Cln5 Disease	Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis
Vlincl	Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset	Cln5 Disease, Adult
Cln5 Disease, Juvenile	Cln5 Disease, Late Infantile
Neuronal Ceroid Lipofuscinosis Finnish Variant	Finnish Vlincl
Jansky-Bielschowsky Disease	Late-Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis, Late-Infantile	Finnish
Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset	Lipofuscinosis, Ceroid, Neuronal, Type 5
Late-Infantile Neuronal Ceroid Lipfuscinosis	Ceroid Lipofuscinosis, Neuronal, 6

Developmental And Epileptic Encephalopathy 21

DEE21	Epileptic Encephalopathy, Early Infantile, 21
Eiee21	Developmental And Epileptic Encephalopathy, 21
Early Infantile Epileptic Encephalopathy 21	Encephalopathy, Epileptic, Early Infantile, Type 21

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Developmental And Epileptic Encephalopathy 87

DEE87	Epileptic Encephalopathy, Early Infantile, 87
Eiee87	Developmental And Epileptic Encephalopathy, 87
Early Infantile Epileptic Encephalopathy 87

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures	Bfns
Benign Familial Neonatal Convulsions	Benign Familial Neonatal Seizures
Epilepsy Benign Neonatal Familial	Familial Benign Neonatal Convulsions
Benign Neonatal Familial Convulsions	Familial Benign Neonatal Epilepsy
Epilepsy, Benign Neonatal, 2	Benign Familial Convulsion

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder	PRTS
Partington X-Linked Mental Retardation Syndrome	Mrxs1
Mrx36	Intellectual Developmental Disorder, X-Linked, Syndromic 1
Partington Disease	Pdr
Partington-Mulley Syndrome	Russell-Silver Syndrome, X-Linked
Mental Retardation, X-Linked, Syndromic 1	Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Mental Retardation, X-Linked 36	X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
X-Linked Russell-Silver Syndrome	Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
Intellectual Disability, X-Linked, Syndromic 1	Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Partington X-Linked Intellectual Disability Syndrome	X-Linked Intellectual Deficit-Dystonia-Dysarthria
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures	Familial Cutaneous Amyloidosis
X-Linked Cutaneous Amyloidosis	Xlpdr
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome	Pigmentary Disorder, Reticulate, With Systemic Manifestations

Benign Neonatal Seizures

Benign Neonatal Epilepsy	Benign Familial Neonatal Seizures
Benign Neonatal Convulsions	Benign Familial Neonatal Convulsions
Benign Familial Neonatal Epilepsy	Bfne
Bfns	Seizures, Benign Neonatal
Neonatal Convulsions Benign	Epilepsy, Benign Neonatal
Epilepsy, Benign Neonatal, 2	Benign Familial Convulsion
Familial Benign Neonatal Epilepsy

Landau-Kleffner Syndrome

Acquired Epileptic Aphasia	Lks
Acquired Aphasia With Convulsive Disorder	Acquired Epileptiform Aphasia
Landau Kleffner Syndrome	Childhood Epileptic Aphasia

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

Schuurs-Hoeijmakers Syndrome

SHMS	Pacs1-Related Syndrome
Mrd17	Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 17	Autosomal Dominant Intellectual Disability-17
Autosomal Dominant Mental Retardation 17	Pacs1 Syndrome
Mental Retardation, Autosomal Dominant 17

Aicardi Syndrome

AIC	Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
Agenesis Of Corpus Callosum With Chorioretinal Abnormality	Aicardi'S Syndrome
Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities	Callosal Agenesis And Ocular Abnormalities
Chorioretinal Anomalies With Acc

Holoprosencephaly 11

HPE11	Holoprosencephaly-11
Holoprosencephaly, Type 11

Pitt-Hopkins-Like Syndrome 2

PTHSL2	Mesh
D006985	Mesh
D008607

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Partial Motor Epilepsy

Epilepsy, Partial, Motor	Epilepsy, Focal Motor
Focal Motor Seizure

Developmental And Epileptic Encephalopathy 9

Efmr	Epileptic Encephalopathy, Early Infantile, 9
Eiee9	DEE9
Juberg-Hellman Syndrome	Epilepsy, Female-Restricted, With Mental Retardation
Developmental And Epileptic Encephalopathy, 9	Early Infantile Epileptic Encephalopathy 9
Early Infantile Female-Limited Epilecptic Encephalopathy	Female Restricted Epilepsy With Mental Retardation
Juberg Hellman Syndrome	Pcdh19-Related Female-Limited Epilepsy
Epilepsy And Intellectual Disability Limited To Females	Epilepsy, Female Restricted, With Intellectual Disability
Familial Epilepsy And Intellectual Disability Limited To Females	Female Restricted Epilepsy With Intellectual Delays
Pcdh19-Related Fle	Pcdh19-Related Infantile Epileptic Encephalopathy
Female Restricted Epilepsy With Intellectual Disability	Encephalopathy, Epileptic, Early Infantile, Type 9

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Photosensitive Epilepsy

Pse	Photogenic Epilepsy
Photoparoxysmal Response	Reflex Epilepsy, Photosensitive
Photoparoxysmal Response 1

Pitt-Hopkins Syndrome

PTHS	Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
Mental Retardation, Syndromal, With Intermittent Hyperventilation	Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
Pitt Hopkins Syndrome	Phs
Encephalopathy Severe Epileptic With Autonomic Dysfunction

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle	Autosomal Dominant Sleep-Related Hypermotor Epilepsy
Enfl	Benign Familial Infantile Seizures 6
Benign Familial Infantile Seizures, 6	Nocturnal Frontal Lobe Epilepsy-4
Enfl1	Epilepsy, Nocturnal Frontal Lobe, 1
Epilepsy, Nocturnal Frontal Lobe, Type 1

Generalized Epilepsy With Febrile Seizures Plus

Gefs+	Genetic Epilepsy With Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures-Plus	Genetic Epilepsy With Febrile Seizures-Plus
Epilepsy, Generalized, With Febrile Seizures Plus

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy	Epileptic Seizures, Tonic-Clonic
Grand Mal Epilepsy	Epilepsy, Tonic-Clonic

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy	Arnd
Encephalopathy, Static	Alcohol Related Neurodevelopmental Disorder

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1	Infantile Epileptic-Dyskinetic Encephalopathy
DEE1	Eiee1
Issx1	Xmesid
X-Linked Infantile Spasm Syndrome 1	X-Linked Infantile Spasm Syndrome
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Developmental And Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy	Infantile Spasm Syndrome, X-Linked 1
West Syndrome, X-Linked	Ohtahara Syndrome, X-Linked
Early Infantile Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy-1
Issx	X-Linked Ohtahara Syndrome
X-Linked West Syndrome	Infantile Spasm Syndrome X-Linked 1
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity	Ohtahara Syndrome X-Linked
West Syndrome X-Linked	Encephalopathy, Epileptic, Early Infantile, Type 1

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13989	STXBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STXBP1	VGNC	VGNC:78049
Rattus norvegicus	STXBP1	RGD	RGD:3785
Canis familiaris	STXBP1	VGNC	VGNC:46959
Felis catus	STXBP1	VGNC	VGNC:65818
Mus musculus	STXBP1	MGD	MGI:107363
Bos taurus	STXBP1	VGNC	VGNC:35445