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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
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.
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Protein Aliases: tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3
Gene Aliases: ADAT3; TAD3
Entrez Gene ID: (Human) 113179
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