CYP26B1 Back

cytochrome P450, family 26, subfamily B, polypeptide 1

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NCBI Description of CYP26B1

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.

Community Annotation of CYP26B1 Add / Edit CYP26B1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CYP26B1 is highly significantly mutated in
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CYP26B1 is significantly mutated in
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CYP26B1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for CYP26B1