DDAH2
DDAH family member 2, ADMA-independent
Summary
This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1323828894 | 6:31,695,066 | C/A | — | uncertain significance |
| rs773811465 | 6:31,695,454 | T/C | — | uncertain significance |
| rs150832184 | 6:31,696,235 | G/A | — | uncertain significance |
| rs993493504 | 6:31,696,245 | C/G | — | uncertain significance |
| rs11752493 | 6:31,696,413 | C/G | — | benign |
| rs73728976 | 6:31,696,928 | G/C | — | benign |
| rs805305 | 6:31,697,387 | C/G | regulatory region variant | — |
| rs707916 | 6:31,697,558 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.