Alias |
KIAA0526,LCB 2,LCB2,LCB2a,Long chain base biosynthesis protein 2,Long chain base biosynthesis protein 2a,Serine palmitoyl CoA transferase 2,Serine palmitoyltransferase 2,Serine palmitoyltransferase long chain base subunit 2,Serine palmitoyltransferase subunit II,Serine-palmitoyl-CoA transferase 2,SPT 2,SPT2,SPTC2,SPTLC 2,Sptlc2 |
Background |
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. |