CYP26B1
Cytochrome P450 Family 26 Subfamily B Member 1
Gene Information Card
| Symbol | CYP26B1 |
|---|---|
| Full Name | Cytochrome P450 Family 26 Subfamily B Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.2 |
| NCBI Gene ID | 56603 ncbi.nlm.nih.gov/gene/56603 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9NR63 |
| OMIM ID | 605207 |
| HGNC ID | 20581 |
| Aliases | CYP26A2, P450RAI-2, bA150G21.2 |
Description
CYP26B1 encodes a member of the cytochrome P450 superfamily of enzymes. This protein specifically hydroxylates all-trans-retinoic acid (atRA), a derivative of vitamin A, into more polar metabolites, thereby regulating the local concentration of retinoic acid. Proper retinoic acid signaling is critical for embryonic development, including limb formation, craniofacial development, and organogenesis. Mutations in CYP26B1 are associated with skeletal abnormalities and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Radial Ray Deficiency, Autosomal Recessive | Loss-of-function mutations reduce retinoic acid degradation, leading to excess retinoic acid signaling and impaired limb development. | OMIM #614416 |
| Craniosynostosis, Autosomal Recessive | Mutations disrupt retinoic acid homeostasis, affecting cranial suture fusion. | OMIM #614416 |
| Skeletal Dysplasia, Lethal | Severe loss-of-function variants cause profound skeletal malformations and prenatal lethality. | OMIM #614416 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.8 | Low |
| Kidney | 0.5 | Low |
| Skin | 0.3 | Low |
| Brain | 0.2 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.6 | Hepatocellular carcinoma cell line |
| A549 | 0.4 | Lung carcinoma cell line |
| MCF7 | 0.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Ter) | Nonsense | Rare | Loss of function; associated with radial ray deficiency |
| c.427C>T (p.Arg143Trp) | Missense | Rare | Reduced enzymatic activity; craniosynostosis |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Impaired retinoic acid metabolism; skeletal dysplasia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish retinoic acid hydroxylase activity, leading to elevated retinoic acid levels.
Gain of Function (GOF)
Not reported in CYP26B1.
Dominant Negative (DN)
Not reported in CYP26B1.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • iron ion binding (GO:0005506) |
| • retinoic acid 4-hydroxylase activity (GO:0008406) | • integral component of membrane (GO:0016021) |
| • retinoic acid metabolic process (GO:0032526) | • retinol metabolic process (GO:0042572) |
Pathways
• Retinoic acid metabolism pathway
• Vitamin A and carotenoid metabolism
Protein Summary
CYP26B1 is a 512-amino acid microsomal cytochrome P450 enzyme that localizes to the endoplasmic reticulum. It catalyzes the oxidation of all-trans-retinoic acid to 4-hydroxy-retinoic acid and further to 4-oxo-retinoic acid, key steps in retinoic acid clearance. The protein contains a conserved heme-binding domain and a substrate recognition site specific for retinoic acid. Its expression is tightly regulated during development to maintain retinoic acid gradients.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP26B1 Knockout HEK293 Cell Line | EDJ-KQ13081 | Human | 56603 | Details Get a Quote |
| CYP26B1 Knockout A-549 Cell Line | EDJ-KQ42362 | Human | 56603 | Details Get a Quote |
| CYP26B1 Knockout HCT 116 Cell Line | EDJ-KQ42363 | Human | 56603 | Details Get a Quote |
| CYP26B1 Knockout HeLa Cell Line | EDJ-KQ42364 | Human | 56603 | Details Get a Quote |
| CYP26B1 Knockout KYSE-30 Cell Line | EDJ-KZ175 | Human | 56603 | Details Get a Quote |
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