gene 584 words KG: ADARB1
Contents

ADARB1 Gene

🧬 Gene Info
Gene SymbolADARB1
AliasesADAR2
Chromosome21q22.3 [@mannion2019]
FunctionThe ADARB1 gene encodes adenosine deaminase acting on RNA 2 (ADAR2), an enzyme that catalyzes the deamination of adenosine to inosine (A-to-I editing) in double-stranded RNA.
Primary Expressionneurons but not in glial cells
Molecular Weight70 kDa
Amino Acids739 aa
UniProt IDP78563
NCBI Gene ID104
Ensembl IDENSG00000101850
GeneCardsADARB1
Human Protein AtlasADARB1
Glutamate receptor editingADAR2 edits GRIA2 (GluA2) pre-mRNA, converting a glutamine (Q) to arginine (R) at the Q/R site, critical for preventing excitotoxicity
NeurodevelopmentA-to-I editing is essential for normal brain development
RNA stabilityEditing affects miRNA binding and RNA splicing
Associated DiseasesAmyotrophic Lateral Sclerosis, Aicardi-Goutières Syndrome, Huntington's Disease, Bipolar Disorder, Schizophrenia
DatabasesGeneCardsHPASTRING

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