| Entrez gene ID | | 9517 |
| Official gene symbol | | SPTLC2 |
| Full name | | serine palmitoyltransferase, long chain base subunit 2 |
| Aliases | | ,KIAA0526,LCB2,SPT2, |
| Gene summary | | This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] |
| Location | | Chromosome: 14 Locus: 14q24.3-q31 |
| Gene position | | 78083110 - 77973270 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 109841 bp |
| Gene sequence |
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| OMIM ID | | 605713 |
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