| Primary Identifier | MGI:1921692 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 74442 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ceramide phosphoethanolamine synthase activity and sphingomyelin synthase activity. Involved in sphingomyelin biosynthetic process. Acts upstream of or within ceramide biosynthetic process and ceramide phosphoethanolamine biosynthetic process. Predicted to be located in Golgi apparatus and nucleoplasm. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Is expressed in several structures, including alimentary system; nervous system; skeleton; spleen; and white fat. Human ortholog(s) of this gene implicated in calvarial doughnut lesions with bone fragility. Orthologous to human SGMS2 (sphingomyelin synthase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
