ADI1
acireductone dioxygenase 1
Summary
This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372843618 | 2:3,502,796 | G/A | — | uncertain significance |
| rs143494796 | 2:3,502,820 | C/G | — | uncertain significance |
| rs748218756 | 2:3,502,846 | G/A | — | uncertain significance |
| rs759550378 | 2:3,502,847 | T/C | — | likely benign |
| rs1164568907 | 2:3,504,710 | G/C | — | uncertain significance |
| rs13393515 | 2:3,507,086 | A/G | — | — |
| rs1254933369 | 2:3,523,155 | C/G | — | uncertain significance |
| rs768517808 | 2:3,523,179 | C/G | — | uncertain significance |
| rs942499417 | 2:3,523,219 | G/C | — | uncertain significance |
| rs2103217564 | 2:3,523,232 | G/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.