| Primary Identifier | MGI:2136690 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 93898 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process and negative regulation of D-glucose import. Acts upstream of or within brain development. Located in intracellular membrane-bounded organelle. Is expressed in testis and thyroid gland. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 8. Orthologous to human CERS1 (ceramide synthase 1). PHENOTYPE: Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan. [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
