| 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 8.0.0) Predicted to enable 17-hydroxyprogesterone 21-hydroxylase activity; heme binding activity; and progesterone 21-hydroxylase activity. Predicted to be involved in steroid metabolic process. Predicted to be located in endoplasmic reticulum 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
