Aliases for SPTSSA Gene
External Ids for SPTSSA Gene
Previous HGNC Symbols for SPTSSA Gene
Previous GeneCards Identifiers for SPTSSA Gene
Serine palmitoyltransferase (SPT; EC 188.8.131.52) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
GeneCards Summary for SPTSSA Gene
SPTSSA (Serine Palmitoyltransferase Small Subunit A) is a Protein Coding gene. Diseases associated with SPTSSA include Nephrotic Syndrome, Type 14 and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include serine C-palmitoyltransferase activity.
UniProtKB/Swiss-Prot Summary for SPTSSA Gene
Stimulates the activity of serine palmitoyltransferase (SPT). 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-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851). Plays a role in MBOAT7 location to mitochondria-associated membranes (MAMs), may me involved in fatty acid remodeling phosphatidylinositol (PI) (PubMed:23510452).