| Primary Identifier | MGI:1913433 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 66183 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Contributes to serine C-palmitoyltransferase activity. Acts upstream of or within ceramide biosynthetic process; endoplasmic reticulum organization; and regulation of serine C-palmitoyltransferase activity. Part of serine palmitoyltransferase complex. Is expressed in central nervous system; eye; genitourinary system; and gut. Orthologous to human SPTSSB (serine palmitoyltransferase small subunit B). PHENOTYPE: Mice heterozygous for an ENU mutation exhibit shiny flecks in the ocular fundus and brain vacuoles. Mice homozygous for the allele exhibit premature death, ataxia, decreased weight, shiny flecks in the ocular fundus, brain and retina vacuoles and impaired ER stress response. [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
