| Primary Identifier | MGI:2444110 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 208449 |
| 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. Predicted to be located in Golgi trans cisterna. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; ear; limb; and respiratory system. Orthologous to human SGMS1 (sphingomyelin synthase 1). PHENOTYPE: Homozygotes for a null allele show decreased body weight and insulin secretion, pancreatic beta-cell mitochondrial dysfunction, and premature death. Homozygotes for another null allele show altered spermatogenesis, testicular lipid profiles and blood-testis barrier function, and male infertility. [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
