Gene
cyp11a1.2
- ID
- ZDB-GENE-130911-1
- Name
- cytochrome P450 family 11 subfamily A member 1, tandem duplicate 2
- Symbol
- cyp11a1.2 Nomenclature History
- Previous Names
-
- cyp11a2
- si:dkeyp-91c1.6
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable cholesterol monooxygenase (side-chain-cleaving) activity; heme binding activity; and iron ion binding activity. Acts upstream of or within cortisol biosynthetic process; positive regulation of steroid hormone biosynthetic process; and spermatogenesis. Predicted to be located in membrane and mitochondrion. Predicted to be active in mitochondrial inner membrane. Is expressed in brain; endocrine system; and gonad primordium. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital adrenal insufficiency | Alliance | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | 613743 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cytochrome P450 | Cytochrome P450, conserved site | Cytochrome P450, E-class, group I | Cytochrome P450, families 11 and 27 | Cytochrome P450 superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q8E0
|
512 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cyp11a2-201
(1)
|
Ensembl | 1,794 nt | ||
| mRNA |
cyp11a2-202
(1)
|
Ensembl | 1,512 nt |
Interactions and Pathways
No data available
Plasmids
No data available