Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for SPTLC2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9517
Official gene symbolSPTLC2
Full nameserine palmitoyltransferase, long chain base subunit 2
Gene summaryThis 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]
LocationChromosome: 14   Locus: 
Gene position78083110 - 77973270  Map Viewer
OMIM ID605713