Serine Palmitoyltransferase, Long Chain Base Subunit 2 (SPTLC2)

LCB2; SPT2; Long chain base biosynthesis protein 2; Serine-palmitoyl-CoA transferase 2

SPN	P606
HGNC	11278
MGI	108074
PubMed	20920666
RGD	1305447
UniProt	O15270
Wiki	SPTLC2

Serine palmitoyltransferase (SPT; EC 2.3.1.50) is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine.

SPTLC2encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal 5'-phosphate dependent condensation of L-serine and palmitoyl CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified.The LCB2 cDNA encodes a protein of 562 amino acids that is more than 90% identical to the mouse protein.

Reference

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