| Primary Identifier | MGI:2449771 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 244209 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables vitamin D3 25-hydroxylase activity. Acts upstream of or within vitamin D metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in embryo; hepatic primordium; liver; and testis. Human ortholog(s) of this gene implicated in artery disease (multiple); brain infarction; obesity; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1B. Orthologous to human CYP2R1 (cytochrome P450 family 2 subfamily R member 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit more than a 50% reduction in serum 25-hydroxyvitamin D3 levels but remain healthy and show normal serum 1alpha,25-dihydroxyvitamin D3 levels. [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
