| Primary Identifier | MGI:1341877 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 13116 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cholesterol 24-hydroxylase activity. Involved in cholesterol catabolic process and regulation of long-term synaptic potentiation. Acts upstream of with a negative effect on protein localization to membrane raft. Located in several cellular components, including dendrite; endoplasmic reticulum membrane; and postsynapse. Is expressed in several structures, including brain; genitourinary system; liver; retina; and spleen. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human CYP46A1 (cytochrome P450 family 46 subfamily A member 1). PHENOTYPE: Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%. [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
