AKR1B1
aldo-keto reductase family 1 member B
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116049631 | 7:134,127,495 | G/A | — | likely benign |
| rs1803093 | 7:134,130,034 | G/A | — | likely benign |
| rs147442012 | 7:134,132,072 | T/C | — | uncertain significance |
| rs201921941 | 7:134,132,088 | T/C | — | uncertain significance |
| rs114023160 | 7:134,132,753 | C/T | — | benign |
| rs2485329046 | 7:134,132,770 | T/C | — | uncertain significance |
| rs772301030 | 7:134,133,143 | G/A | — | uncertain significance |
| rs1467939858 | 7:134,133,155 | A/G | — | uncertain significance |
| rs140139985 | 7:134,133,159 | G/A | — | likely benign |
| rs2485332084 | 7:134,133,772 | T/C | — | uncertain significance |
| rs150113325 | 7:134,134,466 | T/C | — | benign |
| rs5060 | 7:134,134,478 | C/T | — | benign |
| rs141337439 | 7:134,134,517 | C/T | — | likely benign |
| rs754080850 | 7:134,135,564 | G/C | — | uncertain significance |
| rs116793843 | 7:134,135,595 | G/A | — | benign |
| rs751246702 | 7:134,136,346 | C/T | — | uncertain significance |
| rs2485339331 | 7:134,136,387 | T/C | — | uncertain significance |
| rs371350653 | 7:134,136,486 | G/A | — | uncertain significance |
| rs759853 | 7:134,143,958 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.