The adarb1 gene encodes an rna editing enzyme of the adenosine deaminase family that acts on double-stranded rna. In situ hybridization shows expression in the brain, eye, neural tube, and pronephros d...[+]

The adarb1 gene encodes an rna editing enzyme of the adenosine deaminase family that acts on double-stranded rna. In situ hybridization shows expression in the brain, eye, neural tube, and pronephros during development. The protein localizes to the nucleus and is involved in the post-transcriptional modification of mrna transcripts by catalyzing the deamination of adenosine to inosine. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD