CYP26A1 (Cytochrome P450 Family 26 Subfamily A Member 1)
Retinoic acid-metabolizing enzyme regulating embryonic development and cellular differentiation
Gene Information Card
| Symbol | CYP26A1 |
|---|---|
| Full Name | Cytochrome P450 family 26 subfamily A member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 1592 ncbi.nlm.nih.gov/gene/1592 |
| Ensembl ID | ENSG00000095574 |
| UniProt ID | O43174 |
| OMIM ID | 602239 |
| HGNC ID | 2603 |
| Aliases | CP26, CYP26, P450RAI, cytochrome P450 retinoic acid-inactivating 1 |
Description
CYP26A1 encodes a member of the cytochrome P450 superfamily, specifically the CYP26 family. This enzyme is involved in the metabolism of all-trans-retinoic acid (atRA), a derivative of vitamin A that is critical for embryonic development, cell differentiation, and homeostasis. CYP26A1 catalyzes the hydroxylation of atRA into more polar metabolites, thereby regulating its local concentration and preventing teratogenic effects. The gene is expressed in various tissues, with high levels in the liver and placenta, and plays a role in the catabolism of retinoic acid during development and in adult tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Embryonic lethality and congenital malformations | Loss-of-function mutations lead to elevated retinoic acid levels, disrupting developmental signaling pathways. | Mouse models with Cyp26a1 knockout exhibit embryonic lethality and defects in neural tube, limb, and craniofacial development (OMIM). |
| Potential role in cancer | Altered CYP26A1 expression may affect retinoic acid levels, influencing cell proliferation and differentiation in certain cancers. | Expression changes observed in some cancer types (COSMIC), but direct causal evidence is limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 32.1 | High |
| Placenta | 20.5 | Medium |
| Small Intestine | 15.3 | Medium |
| Kidney | 8.7 | Low |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.6 | Hepatocellular carcinoma cell line, high expression |
| A549 | 12.3 | Lung carcinoma, moderate expression |
| MCF7 | 3.4 | Breast cancer, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of function, affecting protein initiation |
| c.845C>T (p.Pro282Leu) | Missense | Rare | May reduce enzyme activity, but clinical significance uncertain |
| c.1234G>A (p.Glu412Lys) | Missense | Rare | Likely damaging, affects substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish CYP26A1 enzymatic activity, leading to elevated retinoic acid levels and potential developmental toxicity.
Gain of Function (GOF)
Not well-documented; no known activating mutations reported in literature.
Dominant Negative (DN)
No evidence for dominant-negative effects; CYP26A1 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • iron ion binding |
| • heme binding | • retinoic acid 4-hydroxylase activity |
| • monooxygenase activity | • response to retinoic acid |
| • retinoic acid catabolic process | • embryonic limb morphogenesis |
Pathways
• Retinoic acid metabolism pathway
• Cytochrome P450 pathway
• Vitamin A and carotenoid metabolism
Protein Summary
CYP26A1 is a 56 kDa microsomal protein consisting of 497 amino acids. It belongs to the cytochrome P450 superfamily and contains a conserved heme-binding domain. The enzyme is localized to the endoplasmic reticulum and catalyzes the oxidation of all-trans-retinoic acid into 4-hydroxy-retinoic acid and further into more polar metabolites. This activity is essential for maintaining retinoic acid homeostasis during embryogenesis and in adult tissues. The protein is expressed in a tissue-specific manner, with highest levels in liver and placenta, and its expression is inducible by retinoic acid itself.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP26A1 Knockout HEK293 Cell Line | EDJ-KQ3680 | Human | 1592 | Details Get a Quote |
| CYP26A1 Knockout A-549 Cell Line | EDJ-KQ26939 | Human | 1592 | Details Get a Quote |
| CYP26A1 Knockout HeLa Cell Line | EDJ-KQ53063 | Human | 1592 | Details Get a Quote |
| CYP26A1 Knockout HCT 116 Cell Line | EDJ-KQ70021 | Human | 1592 | Details Get a Quote |
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