SPTSSA serine palmitoyltransferase small subunit A
Gene ID: 171546, updated on 4-Jan-2025Gene type: protein coding
Also known as: SPG90A; SPG90B; SSSPTA; C14orf147
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- Go to complete Gene record for SPTSSA
- Go to Variation Viewer for SPTSSA variants
Summary
Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spastic paraplegia 90A, autosomal dominant | not available |
| Spastic paraplegia 90B, autosomal recessive | not available |
Genomic context
- Location:
- 14q13.1
- Sequence:
- Chromosome: 14; NC_000014.9 (34432788..34462240, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPTSSA 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
- Variation ViewerRelated Variants
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