SPTLC1 serine palmitoyltransferase long chain base subunit 1
Gene ID: 10558, updated on 7-Apr-2024Gene type: protein coding
Also known as: HSN1; LBC1; LCB1; SPT1; SPTI; ALS27; HSAN1
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- Go to complete Gene record for SPTLC1
- Go to Variation Viewer for SPTLC1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis 27, juvenile | not available |
| Genetic variation modifies risk for neurodegeneration based on biomarker status. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| Hereditary sensory and autonomic neuropathy type 1 MedGen: C0020071GeneReviews: SPTLC1-Related Hereditary Sensory Neuropathy | See labs |
| Neuropathy, hereditary sensory and autonomic, type 1A | See labs |
Genomic context
- Location:
- 9q22.31
- Sequence:
- Chromosome: 9; NC_000009.12 (92031147..92115413, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPTLC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SPTLC1 @ LOVD
- Variation ViewerRelated Variants
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