| Primary Identifier | MGI:88582 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 13070 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cholesterol monooxygenase (side-chain-cleaving) activity. Acts upstream of or within C21-steroid hormone biosynthetic process. Located in mitochondrion. Is expressed in several structures, including central nervous system; endocrine gland; reproductive system; retina; and skin. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia and congenital adrenal insufficiency. Orthologous to human CYP11A1 (cytochrome P450 family 11 subfamily A member 1). PHENOTYPE: Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality. [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
