Entrez Gene ID | 51302 |
---|---|
Official Gene Symbol | CYP39A1 (GeneCards) |
Full name | cytochrome P450 family 39 subfamily A member 1 |
Location | 6p12.3 |
Other ids | Vega : OTTHUMG00000014785 MIM : 605994 HGNC : HGNC:17449 Ensembl : ENSG00000146233 |
Other names | None |
Summary | 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 endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
10140 | 51302 | CYP39A1 | 6 | 46532141 | 46532141 | Cockayne syndrome | HiSeq X Ten |
26222 | 51302 | CYP39A1 | 6 | 46548168 | 46548168 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |