CYP26C1

Chr 10

cytochrome P450 family 26 subfamily C member 1

Also known as: FFDD4

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFocal facial dermal dysplasia 4
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.002
Z-score 1.97
OE 0.46 (0.260.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.06Z-score
OE missense 0.99 (0.901.09)
274 obs / 276.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.260.86)
00.351.4
Missense OE?0.99 (0.901.09)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 7 / 15.3Missense obs/exp: 274 / 276.7Syn Z: 1.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CYP26C1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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