基因名:
SPTLC2
产品别名:
HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a; SPTLC2; serine palmitoyltransferase long chain base subunit 2; serine palmitoyltransferase long chain base subunit 2; serine palmitoyltransferase 2; LCB 2; SPT 2; long chain base biosynthesis protein 2a; serine palmitoyltransferase, subunit II; serine-palmitoyl-CoA transferase 2; 丝氨酸棕榈酰转移酶2; 丝氨酸棕榈酰转移酶长链碱性亚基2(SPTLC2);
背景信息:
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. [provided by RefSeq, Mar 2011].