AKR1C3
aldo-keto reductase family 1 member C3
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4525119 | 10:5,091,954 | C/T | upstream gene variant | — |
| rs7478670 | 10:5,125,538 | T/G | — | — |
| rs1937845 | 10:5,136,148 | A/G | upstream gene variant | — |
| rs12529 | 10:5,136,651 | C/G | missense variant | — |
| rs193920842 | 10:5,136,663 | G/T | — | uncertain significance |
| rs1554784863 | 10:5,136,684 | G/A | — | likely benign |
| rs2518049 | 10:5,138,036 | A/G | regulatory region variant | — |
| rs150753542 | 10:5,138,656 | C/T | — | uncertain significance |
| rs782190855 | 10:5,138,711 | T/G | — | uncertain significance |
| rs35961894 | 10:5,138,714 | G/A | — | benign |
| rs782157138 | 10:5,138,738 | T/C | — | uncertain significance |
| rs200981816 | 10:5,139,642 | A/G | — | uncertain significance |
| rs140441894 | 10:5,139,694 | A/T | — | uncertain significance |
| rs782753500 | 10:5,141,049 | T/G | — | uncertain significance |
| rs28943579 | 10:5,141,058 | G/A | — | benign |
| rs10508293 | 10:5,141,137 | A/T | — | — |
| rs192314534 | 10:5,141,520 | C/T | — | uncertain significance |
| rs1937839 | 10:5,141,530 | G/A | — | benign |
| rs782171165 | 10:5,141,572 | C/G | — | uncertain significance |
| rs140580498 | 10:5,141,639 | C/T | — | likely benign |
| rs151229504 | 10:5,144,306 | C/T | — | likely benign |
| rs139146411 | 10:5,144,318 | G/A | — | benign |
| rs536138448 | 10:5,144,323 | A/G | — | uncertain significance |
| rs200858905 | 10:5,144,354 | T/G | — | uncertain significance |
| rs483352820 | 10:5,144,365 | G/A | — | not provided |
| rs1554786231 | 10:5,144,677 | G/T | — | uncertain significance |
| rs1293610449 | 10:5,144,727 | T/G | — | uncertain significance |
| rs782377695 | 10:5,144,744 | C/G | — | uncertain significance |
| rs782266004 | 10:5,144,808 | G/A | — | uncertain significance |
| rs368182129 | 10:5,144,814 | A/G | — | uncertain significance |
| rs140613308 | 10:5,144,822 | C/T | — | uncertain significance |
| rs1554786303 | 10:5,144,825 | A/G | — | uncertain significance |
| rs1476551152 | 10:5,144,841 | A/C | — | uncertain significance |
| rs782141648 | 10:5,147,842 | G/C | — | uncertain significance |
| rs2491549207 | 10:5,147,868 | A/T | — | uncertain significance |
| rs183791137 | 10:5,150,158 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.