CYP4V2 Gene Summary [Human]
This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CYP4V2 |
| Official Name | cytochrome P450 family 4 subfamily V member 2 [Source:HGNC Symbol;Acc:HGNC:23198] |
| Ensembl ID | ENSG00000145476 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 4 subfamily V member 2 |
| Synonyms | BCD, CYP4AH1, Cyp4v3, cytochrome P450 family 4 subfamily V member 2, cytochrome P450, family 4, subfamily v, polypeptide 3, Loc266761 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CYP4V2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytochrome P450 (CYP) superfamily
- Cytochrome P450
- enzyme
- protein binding
- NADH2 or NADPH2 1 atom incorporation:oxygen oxidoreductase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- Bietti crystalline retinopathy
- retinitis pigmentosa
- alkalinization
- soft tissue sarcoma
- soft tissue sarcoma cancer
- optic atrophy
role in cell
- expression in
- cell death
- accumulation in
- function
- formation
- degeneration
- formation in
- function in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP4V2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinoid metabolic process
- visual perception
- fatty acid omega-oxidation
- sterol metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- iron ion binding
- monooxygenase activity
- heme binding