MGP Database

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MGP005590

UniProt Annotations

Entry Information
Gene Namearginyl-tRNA synthetase 2, mitochondrial
Protein EntrySYRM_HUMAN
UniProt IDQ5T160
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg).
DiseasePontocerebellar hypoplasia 6 (PCH6) [MIM:611523]: A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. {ECO:0000269|PubMed:17847012}. Note=The disease is caused by mutations affecting the gene represented in this entry.
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000250}.
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