The gene sgms2 encodes sphingomyelin synthase 2, an enzyme responsible for synthesizing sphingomyelin from ceramide and phosphatidylcholine. The mRNA is expressed in the oocyte, egg, and early embryo, ...[+]

The gene sgms2 encodes sphingomyelin synthase 2, an enzyme responsible for synthesizing sphingomyelin from ceramide and phosphatidylcholine. The mRNA is expressed in the oocyte, egg, and early embryo, with later expression observed in the brain, eye, neural tube, spinal cord, and branchial arches. The protein is localized to the golgi apparatus and plasma membrane. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD