Gene: CYP26B1

Alternate names for this Gene: CYP26A2|P450RAI-2|P450RAI2|RHFCA

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.2

Description of this Gene: cytochrome P450 family 26 subfamily B member 1

Type of Gene: protein-coding

rs2241059 in CYP26B1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs281875231 in CYP26B1 gene and RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES PMID 22019272 2011 Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.

rs3768644 in CYP26B1 gene and Schizophrenia PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs2241058 in CYP26B1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.