SPTLC2 is 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.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.