SPTLC3 serine palmitoyltransferase long chain base subunit 3
Gene ID: 55304, updated on 2-Nov-2024Gene type: protein coding
Also known as: LCB3; SPT3; LCB 3; LCB2B; SPT 3; hLCB2b; SPTLC2L; C20orf38; dJ718P11; dJ718P11.1
- See all available tests in GTR for this gene
- Go to complete Gene record for SPTLC3
- Go to Variation Viewer for SPTLC3 variants
Summary
This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. GeneReviews: Not available | |
| Genetic determinants of circulating sphingolipid concentrations in European populations. GeneReviews: Not available | |
| Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. GeneReviews: Not available | |
| Genome-wide association study of personality traits in bipolar patients. GeneReviews: Not available |
Genomic context
- Location:
- 20p12.1
- Sequence:
- Chromosome: 20; NC_000020.11 (13008972..13169103)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPTLC3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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