SPTLC1 - serine palmitoyltransferase long chain base subunit 1 Gene

Homo sapiens

Also known as HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1

Gene ID: 10558 | Gene type: protein coding

About SPTLC1

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:92,031,147-92,115,413 (from NCBI)

This gene has 25 transcripts (splice variants), 205 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 21.8), esophagus (RPKM 19.8) and 25 other tissues.

Summary

This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key Enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

SPTLC1 Products(5)

mRNA	Protein	Name
NM_001281303.2	NP_001268232.1	serine palmitoyltransferase 1 isoform c
NM_001368272.1	NP_001355201.1	serine palmitoyltransferase 1 isoform d
NM_001368273.1	NP_001355202.1	serine palmitoyltransferase 1 isoform e
NM_006415.4	NP_006406.1	serine palmitoyltransferase 1 isoform a
NM_178324.3	NP_847894.1	serine palmitoyltransferase 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19416851	GOA
contributes to serine C-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	25332431	GOA
enables serine C-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	19416851	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within ceramide biosynthetic process	IDA IDA: Inferred from direct assay	25691431	GOA
acts upstream of or within positive regulation of lipophagy	IDA IDA: Inferred from direct assay	25332431	GOA
acts upstream of or within sphingolipid biosynthetic process	IDA IDA: Inferred from direct assay	25332431	GOA
involved in sphingosine biosynthetic process	IDA IDA: Inferred from direct assay	19416851	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of serine palmitoyltransferase complex	IDA IDA: Inferred from direct assay	19416851	GOA
part of serine palmitoyltransferase complex	IPI IPI: Inferred from physical interaction	19416851	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

SPTLC1 Protein Structure

Aminotran_1_2

0
100
200
300
400
473 a.a.

Protein Preferred Names

Protein Names

serine palmitoyltransferase 1

long chain base biosynthesis protein 1

Related Diseases

Diseases

Alias

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A	Hsan Ia
Hsan1	Hsn Ia
Hereditary Sensory And Autonomic Neuropathy Type 1a	Neuropathy, Hereditary Sensory And Autonomic, Type 1a
Neuropathy, Hereditary Sensory, Type Ia	Hsn1a
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a	Hereditary Sensory And Autonomic Neuropathy Type Ia
Neuropathy, Hereditary Sensory And Autonomic, 1a	Hereditary Sensory Neuropathy Type Ia
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a	Hsn1
Neuropathy, Sensory And Autonomic, Hereditary, Type 1a	Hereditary Sensory Autonomic Neuropathy, Type 1

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Neuropathy, Hereditary Sensory, Type Ie

HSN1E	Hsn Ie
Hereditary Sensory Neuropathy Type 1e	Hereditary Sensory Neuropathy Type Ie
Hsan 1	Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
Hereditary Sensory Neuropathy Type 1	Hsn1
Hereditary Sensory And Autonomic Neuropathy Type 1	Neuropathy Hereditary Sensory And Autonomic Type 1
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant	Neuropathy, Hereditary Sensory, 1e
Neuropathy Hereditary Sensory With Hearing Loss And Dementia	Neuropathy, Hereditary Sensory, Type I
Neuropathy, Sensory, Hereditary, Type Ie	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory Autonomic Neuropathy, Type 1

Juvenile Amyotrophic Lateral Sclerosis

Jals	Juvenile Charcot Disease
Juvenile Lou Gehrig Disease	Amyotrophic Lateral Sclerosis, Juvenile

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

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Autonomic Neuropathy

Diabetic Autonomic Neuropathy

Sensory Peripheral Neuropathy

Sensory Neuropathy	Peripheral Sensory Neuropathy
Hereditary Sensory And Autonomic Neuropathies

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

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 I, With Cough And Gastroesophageal Reflux

Hsan1b	Hereditary Sensory Neuropathy Type 1b
Hsan With Cough And Gastroesophageal Reflux	Neuropathy, Hereditary Sensory And Autonomic, Type Ib
Neuropathy, Hereditary Sensory, Type Ib	Hsn1b
Hereditary Sensory Neuropathy Type Ib	Hereditary Sensory And Autonomic Neuropathy Type 1b
Hereditary Sensory And Autonomic Neuropathy Type 1 With Cough And Gastroesophageal Reflux	Hereditary Sensory And Autonomic Neuropathy Type Ib
Hereditary Sensory Neuropathy, Type Ib

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

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

Neu-Laxova Syndrome 1

Neu-Laxova Syndrome	NLS1
Nls	Neu Laxova Syndrome
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form

Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8	Hsan Viii
Hereditary Sensory And Autonomic Neuropathy Type 8	Hereditary Sensory And Autonomic Neuropathy Type Viii
Neuropathy, Hereditary Sensory And Autonomic, 8	Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

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

Charcot-Marie-Tooth Disease Type 2b	CMT2B
Hmsn Iib	Hmsn2b
Charcot-Marie-Tooth Disease, Type 2b	Hereditary Motor And Sensory Neuropathy Iib
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b	Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b	Charcot-Marie-Tooth Neuropathy, Type 2b
Hereditary Motor And Sensory Nueropathy Iib	Cmt 2b
Charcot Marie Tooth Disease Type 2b	Charcot-Marie-Tooth Disease, Neuronal, Type 2b
Hereditary Motor And Sensory Neuropathy 2 B	Peripheral Sensory Neuropathy, Autosomal Dominant
Charcot-Marie-Tooth Disease 2b	Charcot-Marie-Tooth Disease Axonal Type 2b
Charcot-Marie-Tooth Disease Neuronal Type 2b	Peripheral Sensory Neuropathy Autosomal Dominant
Psn

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

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

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5	Hereditary Sensory And Autonomic Neuropathy Type V
Hsan V	Hereditary Sensory And Autonomic Neuropathy Type 5
Congenital Insensitivity To Pain	Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
Hsan Type V	Insensitivity To Pain, Congenital
Hereditary Sensory And Autonomic Neuropathy, Type 5	Congenital Insensitivity To Pain And Thermal Analgesia
Neuropathy, Hereditary Sensory And Autonomic, 5	Hereditary Sensory Neuropathy Type V
Hsn V	Pain Insensitivity, Congenital
Neuropathy, Sensory And Autonomic, Hereditary, Type V	Hereditary Sensory Autonomic Neuropathy, Type 5
Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Neurogenic Arthropathy

Neuropathic Arthropathy	Arthropathy Associated With Neurological Disorder
Charcot'S Arthropathy	Charcot'S Joint
Arthropathy, Neurogenic	Charcot Joint
Charcot Or Tabetic Arthropathy	Charcot Foot

Neuropathy, Hereditary Sensory, Type Id

HSN1D	Hereditary Sensory Neuropathy Type 1d
Neuropathy, Hereditary Sensory, Type 1d	Neuropathy, Hereditary Sensory, 1d
Hereditary Sensory Neuropathy Type Id	Neuropathy, Sensory, Hereditary, Type Id

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7	HSAN7
Hereditary Sensory And Autonomic Neuropathy Type Vii	Hsan Vii
Cip With Hyperhidrosis And Gastrointestinal Dysfunction	Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction
Hsan With Hyperhidrosis And Gastrointestinal Dysfunction	Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction
Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis	Neuropathy, Hereditary Sensory And Autonomic, 7
Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis	Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Charcot-Marie-Tooth Disease, Dominant Intermediate C

CMTDIC	Charcot-Marie-Tooth Disease Dominant Intermediate C
Di-Cmtc	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C	Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C	Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1	Cmtx
Charcot-Marie-Tooth Disease X-Linked Dominant 1	Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
X-Linked Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
Cmt1x	X-Linked Charcot-Marie-Tooth Disease Type 1
X-Linked Hereditary Motor And Sensory Neuropathy	Hereditary Motor And Sensory Neuropathy, X-Linked
Hmsn, X-Linked	Charcot-Marie-Tooth Neuropathy, X-Linked, 1
Cmt2, Formerly	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
Charcot-Marie-Tooth Neuropathy X-Linked 1	Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
Hereditary Motor And Sensory Neuropathy X-Linked	Hmsn X-Linked
Charcot-Marie-Tooth, X-Linked	Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
Charcot-Marie-Tooth Disease, X-Linked, 1

Tabes Dorsalis

Posterior Spinal Sclerosis	Tabes Dorsalis - Neurosyphilis
Syphilitic Myelopathy

Leber Congenital Amaurosis 1

LCA1	Amaurosis Congenita Of Leber I
Lca	Retinal Blindness, Congenital
Crb	Leber Congenital Amaurosis Type I
Leber Congenital Amaurosis, Type 1	Amaurosis Congenita Of Leber, Type 1

Neuronopathy, Distal Hereditary Motor, Type Iib

HMN2B	Hmn Iib
Neuropathy, Distal Hereditary Motor, Type Iib	Dhmn2b
Distal Hereditary Motor Neuropathy Type 2b	Distal Hereditary Motor Neuropathy Type Iib
Neuronopathy, Distal Hereditary Motor, Type 2b	Neuronopathy, Distal Hereditary Motor, 2b
Dhmn Ii	Neuropathy, Motor, Distal, Hereditary, Type 2b

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Charcot-Marie-Tooth Disease Type 1a	CMT1A
Charcot-Marie-Tooth Disease, Type Ia	Hmsn1a
Hereditary Motor And Sensory Neuropathy Ia	Hmsn Ia
Charcot-Marie-Tooth Neuropathy, Type 1a	Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Neuropathy Type 1a	Hereditary Motor And Sensory Neuropathy 1a
Microduplication 17p12	Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a	Cmt 1a
Charcot Marie Tooth Disease Type 1a	Hmsn 1a
Charcot-Marie-Tooth Disease 1a	Charcot-Marie-Tooth Disease Demyelinating Type 1a
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease Type X

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome	SPG17
Silver Spastic Paraplegia Syndrome	Spastic Paraplegia With Amyotrophy Of Hands And Feet
Hereditary Spastic Paraplegia 17	Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17	Spastic Paraplegia-Amyotrophy Of Hands And Feet
Autosomal Dominant Spastic Paraplegia 17	Dhmn5b
Distal Hereditary Motor Neuropathy Type 5b	Paraplegia, Spastic, Autosomal Dominant, Type 17
Russell-Silver Syndrome	Neuronopathy, Distal Hereditary Motor, Type Vb

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

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

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-RS13736	SPTLC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPTLC1	MGD	MGI:1099431
Macaca mulatta	SPTLC1	VGNC	VGNC:77873
Rattus norvegicus	SPTLC1	RGD	RGD:1307140
Felis catus	SPTLC1	VGNC	VGNC:65663
Canis familiaris	SPTLC1	VGNC	VGNC:46779
Bos taurus	SPTLC1	VGNC	VGNC:35256