| Entrez Gene ID | 1592 |
|---|---|
| Official Gene Symbol | CYP26A1 (GeneCards) |
| Full name | cytochrome P450 family 26 subfamily A member 1 |
| Location | 10q23.33 |
| Other ids | Vega : OTTHUMG00000018765 MIM : 602239 HGNC : HGNC:2603 Ensembl : ENSG00000095596 |
| Other names | CP26, CYP26, P450RAI, P450RAI1 |
| 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 acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 13929 | 1592 | CYP26A1 | 10 | 94885229 | 94885229 | Asymptomatic | HiSeq 2000 |
| 14496 | 1592 | CYP26A1 | 10 | 94881647 | 94881647 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 14544 | 1592 | CYP26A1 | 10 | 94914187 | 94914187 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 14560 | 1592 | CYP26A1 | 10 | 94949552 | 94949552 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 14854 | 1592 | CYP26A1 | 10 | 94939490 | 94939490 | Xeroderma Pigmentosum | HiSeq 2000 HiSeq X Ten |
| 23516 | 1592 | CYP26A1 | 10 | 94986104 | 94986104 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29493 | 1592 | CYP26A1 | 10 | 94836446 | 94836446 | Autism Spectrum Disorders | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |