Gene information for SPTLC2 (Homo sapiens)
(Information is obtained from NCBI Gene database) |
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: |
Gene position | 78083110 - 77973270 Map Viewer |
OMIM ID | 605713 |