Entrez 10558 | Ensembl ENSG00000090054 | |
Aliases SPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1 External IDs MGI: 1099431 HomoloGene: 4681 GeneCards: SPTLC1 |
Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.
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.
References
SPTLC1 Wikipedia(Text) CC BY-SA