Gene: CYP20A1

Alternate names for this Gene: CYP-M

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.2

Description of this Gene: cytochrome P450 family 20 subfamily A member 1

Type of Gene: protein-coding

rs10211196 in CYP20A1 gene and Pseudocholinesterase Measurement PMID 21862451 2011 GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.

rs72938315 in CYP20A1 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.