Aliases for SPTLC2 Gene
External Ids for SPTLC2 Gene
Previous GeneCards Identifiers for SPTLC2 Gene
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]
GeneCards Summary for SPTLC2 Gene
SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2) is a Protein Coding gene. Diseases associated with SPTLC2 include Neuropathy, Hereditary Sensory And Autonomic, Type Ic and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity. An important paralog of this gene is SPTLC3.
UniProtKB/Swiss-Prot for SPTLC2 Gene
Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (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.