SPTLC2

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a is_associated_with::protein which in humans is encoded by the SPTLC2 is_associated_with::gene.

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in is_associated_with::sphingolipid biosynthesis. It catalyzes the pyridoxal 5'-phosphate dependent condensation of L-is_associated_with::serine and is_associated_with::palmitoyl CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with is_associated_with::hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified.