SPTLC1 Products

Description

Serine palmitoyltransferase, which consists of two different subunits, is the key 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. (provided by RefSeq)

Bioinformatics

Entrez	10558 Human
Uniprot	AAH07085 Human LCB1_HUMAN Human NP_006406 Human O15269 Human
Product By Gene ID	10558
Alternate Names	EC 2.3.1.50 hereditary sensory neuropathy, type 1 HSAN1 LBC1 LCB 1 LCB1HSAN Long chain base biosynthesis protein 1 MGC14645 serine C-palmitoyltransferase serine palmitoyltransferase 1 serine palmitoyltransferase, long chain base subunit 1 Serine-palmitoyl-CoA transferase 1 SPT 1 SPT1HSN1 SPTI