| Primary Identifier | MGI:88591 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 13079 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable 17-hydroxyprogesterone 21-hydroxylase activity; heme binding activity; and progesterone 21-hydroxylase activity. Predicted to be involved in progesterone metabolic process and steroid hormone biosynthetic process. Predicted to act upstream of or within steroid biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Is expressed in several structures, including adrenal gland; lung; metanephros; spleen; and testis. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia. Orthologous to several human genes including CYP21A2 (cytochrome P450 family 21 subfamily A member 2). PHENOTYPE: An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene. [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
