AKR7A2
aldo-keto reductase family 7 member A2
Summary
The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116348652 | 1:19,630,143 | G/A | downstream gene variant | — |
| rs765069207 | 1:19,630,723 | C/T | — | uncertain significance |
| rs576464259 | 1:19,630,789 | G/A | — | uncertain significance |
| rs2231206 | 1:19,630,864 | G/C | — | uncertain significance |
| rs994382359 | 1:19,632,573 | G/A | — | uncertain significance |
| rs1018340401 | 1:19,632,604 | C/G | — | uncertain significance |
| rs548864318 | 1:19,633,554 | C/T | — | uncertain significance |
| rs1307632574 | 1:19,633,560 | T/C | — | uncertain significance |
| rs2521363526 | 1:19,633,568 | T/C | — | uncertain significance |
| rs146583457 | 1:19,633,882 | C/T | — | uncertain significance |
| rs747765181 | 1:19,634,659 | A/T | — | uncertain significance |
| rs2521371136 | 1:19,634,687 | T/G | — | uncertain significance |
| rs859210 | 1:19,634,705 | C/T | — | benign |
| rs859208 | 1:19,634,964 | C/G | missense variant | — |
| rs201888607 | 1:19,634,992 | G/A | — | uncertain significance |
| rs548236491 | 1:19,635,010 | G/A | — | uncertain significance |
| rs1458311650 | 1:19,635,061 | G/A | — | uncertain significance |
| rs373072611 | 1:19,638,422 | C/A | — | uncertain significance |
| rs755433212 | 1:19,638,504 | C/A | — | uncertain significance |
| rs886894502 | 1:19,638,543 | G/A | — | uncertain significance |
| rs1291661020 | 1:19,638,575 | T/C | — | likely benign |
| rs975450198 | 1:19,638,582 | C/T | — | uncertain significance |
| rs2521401593 | 1:19,638,594 | C/A | — | uncertain significance |
| rs908272529 | 1:19,638,609 | C/A | — | uncertain significance |
| rs1033441138 | 1:19,638,612 | T/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.