SPTLC2

Also known as HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a, serine palmitoyltransferase long chain base subunit 2

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene. SPTLC2 belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Gene data

SPTLC2

Name: serine palmitoyltransferase long chain base subunit 2
Type: protein-coding
Position: 77,505,997–77,616,672 (−)
Aliases: HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a
Ensembl: ENSG00000100596
RefSeq RNA: NM_004863.4, XM_011537384.3, XM_054377088.1
RefSeq protein: NP_004854.1, XP_011535686.1, XP_054233063.1

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, 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. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011].

Gene Ontology

Biological process

sphingolipid metabolic process sphingomyelin biosynthetic process

Article

5 sections

Contents

Function
Tissue distribution
Clinical significance
References
Further reading

== Function == SPTLC2 encodes a long chain base subunit of serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. It catalyzes the pyridoxal 5'-phosphate dependent condensation of L-serine with an acyl-CoA thioester to yield an amino alcohol. The composition of the SPT complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.