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 have cholesterol monooxygenase (side-chain-cleaving) activity; heme binding activity; and iron ion binding activity. Involved in cortisol biosynthetic process. Predicted to localize to mitochondrial inner membrane. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia and congenital adrenal insufficiency. Is expressed in brain and endocrine system. 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