| Primary Identifier | MGI:1098274 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 13115 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcidiol 1-monooxygenase activity. Involved in calcitriol biosynthetic process from calciol; response to vitamin D; and vitamin D catabolic process. Acts upstream of or within calcium ion transport. Located in mitochondrion. Is expressed in several structures, including extraembryonic component; lower jaw molar; metanephros; and reproductive system. Used to study rickets. Human ortholog(s) of this gene implicated in hepatitis B; obesity; rickets; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1A. Orthologous to human CYP27B1 (cytochrome P450 family 27 subfamily B member 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in 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
