SPTLC1 Chromosome 9
Serine palmitoyltransferase long chain base subunit 1
Upload your DNA to see your personal genotypes for variants in SPTLC1.
What This Gene Does
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]
Gene Info
Gene Group
Serine palmitoyltransferase long chain base subunits
Locus Type
gene with protein product
Location
9q22.31
Ensembl
ENSG00000090054
Associated Conditions (19)
Hereditary sensory and autonomic neuropathy type 1
Inborn genetic diseases
Charcot-Marie-Tooth disease
Neuropathy
hereditary sensory and autonomic
type 1A
Amyotrophic lateral sclerosis 27
juvenile
Amyotrophic lateral sclerosis
Sensorimotor neuropathy
type IA
severe
Ritscher-Schinzel syndrome 4
SPTLC1-related disorder
Proximal muscle weakness
Falls
Muscle spasm
EMG abnormality
Proximal lower limb amyotrophy
Key Variants
RS139086093
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1
Health Risk
RS142153571
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Neuropathy
Health Risk
RS143754785
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1
Health Risk
RS147143593
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Amyotrophic lateral sclerosis 27, juvenile
Health Risk
RS1554706430
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1
Health Risk
RS200773661
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Hereditary sensory and autonomic neuropathy type 1
Health Risk
RS2538427518
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369803886
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS745684683
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1
Health Risk
RS748384890
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1
Health Risk
RS748723735
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS750680286
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139086093 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 |
| RS142153571 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Neuropathy |
| RS143754785 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1 |
| RS147143593 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Amyotrophic lateral sclerosis 27, juvenile |
| RS1554706430 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 |
| RS200773661 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Hereditary sensory and autonomic neuropathy type 1 |
| RS2538427518 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369803886 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS745684683 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 |
| RS748384890 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 |
| RS748723735 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS750680286 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic |
| RS764460003 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 |
| RS765970732 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 |
| RS768841574 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Neuropathy |
| RS769188151 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic |
| RS773640417 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Amyotrophic lateral sclerosis 27, juvenile |
| RS778388513 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic |
| RS781435924 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic |
| RS119482081 | Health Risk | Likely pathogenic | Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic |
| RS1554716504 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1A |
| RS2118448441 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1A |
| RS2118840030 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis 27, juvenile |
| RS797045071 | Health Risk | Likely pathogenic | Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1 |
| RS119482082 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Sensorimotor neuropathy |
| RS1478177125 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis 27, juvenile, Amyotrophic lateral sclerosis 27 |
| RS1554706429 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1 |
| RS267607087 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type IA |
| RS879254294 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis 27, juvenile, Neuropathy |
| RS119482083 | Health Risk | Pathogenic/Likely pathogenic | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Neuropathy |
| RS1197928094 | Health Risk | Pathogenic/Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1A |