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MGP004672

UniProt Annotations

Entry Information
Gene Namehistidyl-tRNA synthetase 2, mitochondrial
Protein EntrySYHM_HUMAN
UniProt IDP49590
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49590-1; Sequence=Displayed; Name=2; IsoId=P49590-2; Sequence=VSP_055133;
Catalytic ActivityATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His).
DiseasePerrault syndrome 2 (PRLTS2) [MIM:614926]: A sex- influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:21464306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000250}.
SubunitHomodimer. {ECO:0000269|PubMed:21464306}.
Tissue SpecificityA high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.
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