SGMS2


Description

The SGMS2 (sphingomyelin synthase 2) is a protein-coding gene located on chromosome 4.

SGMS2 is a sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. It catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis. In the forward reaction, it transfers the phosphocholine head group of phosphatidylcholine (PC) onto ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as a by-product. In the reverse reaction, it transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction appears to depend on the levels of CER and DAG in the plasma membrane. It does not use free phosphorylcholine or CDP-choline as donors. It can also transfer the phosphoethanolamine head group of phosphatidylethanolamine (PE) onto ceramide (CER) to form ceramide phosphoethanolamine (CPE). SGMS2 regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting. To a lesser extent, it plays a role in secretory transport via regulation of the DAG pool at the Golgi apparatus and its downstream effects on PRKD1. SGMS2 is required for normal bone matrix mineralization.

SGMS2 is also known as CDL, SMS2.

Associated Diseases



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