Gene Symbol | ADAR |
Entrez Gene ID | 103 |
Full Name | adenosine deaminase, RNA specific |
Synonyms | ADAR1,AGS6,DRADA,DSH,DSRAD,G1P1,IFI-4,IFI4,K88DSRBP,P136 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | Dyschromatosis symmetrica hereditaria, 127400 (3); Aicardi-Goutieres syndrome 6, 615010 (3) |