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This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4. ADAT3 (Adenosine Deaminase TRNA Specific 3) is a Protein Coding gene. Diseases associated with ADAT3 include Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies and Cone-Rod Dystrophy 10. Among its related pathways are tRNA processing and Processing of Capped Intron-Containing Pre-mRNA. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ADAT2.
100 µL
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