Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy.
Similarity:
Belongs to the class-I aminoacyl-tRNA synthetase family.
Contains 1 GST SLCterminal domain.
SWISS:
P26128
Gene ID:
7407
Database links:
Entrez Gene: 7407 Human
Entrez Gene: 22321 Mouse
Entrez Gene: 25009 Rat
Omim: 192150 Human
SwissProt: P26128 Human
SwissProt: Q9Z1Q9 Mouse
SwissProt: Q04462 Rat
Unigene: 520026 Human
Unigene: 28420 Mouse
Unigene: 12314 Rat
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