Gene Symbol | ADAT3 |
Entrez Gene ID | 113179 |
Full Name | adenosine deaminase, tRNA specific 3 |
Synonyms | FWP005,MRT36,MST121,MSTP121,S863-5,TAD3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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 (Gene ID: 113178). [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 36, 615286 (3) |