SPTLC1 Antibody

Serine palmitoyltransferase, long chain base subunit 1, also known as SPT1, LCB1, is a protein which in humans is encoded by the SPTLC1 gene. Dawkins et al.(2001)noted that the gene maps to chromosome 9q22.1-q22.3. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and 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 hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.