gene: DDAH2
id | 23564 |
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symbol | DDAH2 |
organism | Homo sapiens |
full name | dimethylarginine dimethylaminohydrolase 2 |
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] |
variant-disease |
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 AND See cases GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 AND not provided GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) AND not provided GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 AND See cases GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 AND not provided ... 4 more |
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