Adenosine Deaminase, RNA Specific (ADAR)

Double-stranded RNA-specific adenosine deaminase is an 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.ADAR requires the small molecule inositol hexakisphosphate (IP6) for proper function. Ubiquitously expressed, highest levels were found in brain and lung.SH is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal parts of the hands and feet.