CYP26C1
Cytochrome P450 Family 26 Subfamily C Member 1: Retinoic Acid Metabolism and Developmental Signaling
Gene Information Card
| Symbol | CYP26C1 |
|---|---|
| Full Name | Cytochrome P450 Family 26 Subfamily C Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 340665 ncbi.nlm.nih.gov/gene/340665 |
| Ensembl ID | ENSG00000138180 |
| UniProt ID | Q6V0L0 |
| OMIM ID | 608428 |
| HGNC ID | 20573 |
| Aliases | CYP26C, P450RAI-3, FLJ23594 |
Description
CYP26C1 encodes a member of the cytochrome P450 superfamily of enzymes, specifically subfamily 26. The protein is involved in the metabolism of all-trans-retinoic acid (atRA), a derivative of vitamin A that regulates gene expression in development and differentiation. CYP26C1 hydroxylates atRA, leading to its degradation and thus controlling local retinoic acid levels. This gene is expressed in specific tissues during embryogenesis and in adult tissues, playing a critical role in patterning and homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal facial dermal dysplasia 4 (FFDD4) | Loss-of-function mutations in CYP26C1 disrupt retinoic acid degradation, leading to abnormal craniofacial development. | OMIM #614974; PMID: 23541342 |
| Retinoic acid metabolism disorders | Altered CYP26C1 activity may contribute to teratogenic effects of excess retinoic acid. | ClinVar; PMID: 23541342 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | No expression |
| A549 | 0.0 | No expression |
| MCF7 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.835C>T (p.Arg279*) | Nonsense | Rare | Premature stop, loss of function |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish retinoic acid hydroxylase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
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) |
| • heme binding (GO:0020037) | • oxidation-reduction process (GO:0055114) |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Metabolism of retinoic acid (Reactome: R-HSA-5365859)
Protein Summary
CYP26C1 is a 497-amino acid microsomal cytochrome P450 enzyme that localizes to the endoplasmic reticulum. It contains a conserved heme-binding domain and specifically hydroxylates all-trans-retinoic acid, 9-cis-retinoic acid, and 13-cis-retinoic acid, with highest activity toward atRA. The protein is expressed in a temporally and spatially restricted pattern during development, particularly in the hindbrain and limb buds, and is essential for proper embryonic patterning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP26C1 Knockout HEK293 Cell Line | EDJ-KQ13082 | Human | 340665 | Details Get a Quote |
| CYP26C1 Knockout HeLa Cell Line | EDJ-KQ59693 | Human | 340665 | Details Get a Quote |
| CYP26C1 Knockout A-549 Cell Line | EDJ-KQ68164 | Human | 340665 | Details Get a Quote |
| CYP26C1 Knockout HCT 116 Cell Line | EDJ-KQ76540 | Human | 340665 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
