SPTLC1

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a is_associated_with::protein which in humans is encoded by the SPTLC1 is_associated_with::gene.

Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-is_associated_with::serine and is_associated_with::palmitoyl CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with is_associated_with::hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.