ADAR Gene

Last updated on: 07.04.2022

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DefinitionThis section has been translated automatically.

The ADAR gene (ADAR stands for "Adenosine Deaminase RNA Specific") is a protein coding gene located on chromosome 1q21.3. The ADAR gene encodes a deaminase responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA by converting adenosine to inosine.

General informationThis section has been translated automatically.

The "Adenosine Deaminase RNA Specific" catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA), which is referred to as A-to-I RNA editing. This can affect gene expression and function in several ways (Nishikura K 2010).

The protein enzyme can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing).

Its cellular RNA substrates include:

  • the bladder cancer-associated protein (BLCAP),
  • the neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C)
  • the GABA receptor (GABRA3).

Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions, altering their functional activities.

Clinical pictureThis section has been translated automatically.

Diseases associated with the ADAR gene include.

LiteratureThis section has been translated automatically.

  1. Nishikura K (2010) Functions and regulation of RNA editing by ADAR deaminases. Annu Rev Biochem 79:321-349.
  2. Qu L et al (2019) Programmable RNA editing by recruiting endogenous ADAR using engineered RNAs. Nat Biotechnol 37:1059-1069.
  3. Zhao Z et al. (2019) Analysis of ADAR gene mutations in two pedigrees affected with dyschromatosis symmetrica hereditaria. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 36: 574-576.

Last updated on: 07.04.2022