CYP26B1 Gene Summary [Human]
This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Details
| Type | Protein Coding |
| Official Symbol | CYP26B1 |
| Official Name | cytochrome P450 family 26 subfamily B member 1 [Source:HGNC Symbol;Acc:HGNC:20581] |
| Ensembl ID | ENSG00000003137 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 26 subfamily B member 1 |
| Synonyms | CP26, CYP26A2, cytochrome P450 family 26 subfamily B member 1, cytochrome P450, family 26, subfamily b, polypeptide 1, P450 26A2, P450RAI-2, RHFCA |
| 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 CYP26B1 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
- binding protein
- retinoic acid 4-hydroxylase
- enzyme
- protein binding
- retinoid 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
- atherosclerosis
- radiohumeral fusions with other skeletal and craniofacial anomalies
- diabetic nephropathy
- Huntington disease
- dermatitis
- eyelids open at birth
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- schizophrenia
- oligodactyly
role in cell
- activation
- expression in
- apoptosis
- proliferation
- cell rounding
- mitosis
- abnormal morphology
- quantity
- differentiation
- meiosis
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 CYP26B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bone morphogenesis
- retinoic acid metabolic process
- tongue morphogenesis
- vitamin metabolic process
- establishment of skin barrier
- proximal/distal pattern formation
- embryonic limb morphogenesis
- retinoic acid receptor signaling pathway
- inflammatory response
- kidney development
- establishment of T cell polarity
- negative regulation of retinoic acid receptor signaling pathway
- cornification
- cell fate determination
- male meiosis
- spermatogenesis
- regulation of T cell differentiation
- cellular response to retinoic acid
- positive regulation of gene expression
- xenobiotic metabolic process
- retinoic acid catabolic process
- response to vitamin A
- sterol metabolic process
- positive regulation of tongue muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- retinoic acid binding
- protein binding
- iron ion binding
- retinoic acid 4-hydroxylase activity
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen
- monooxygenase activity
- heme binding