IARS gene

isoleucyl-tRNA synthetase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

From NCBI Gene:

  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

From UniProt:

Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH): An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. [MIM:617093]

Cytogenetic Location: 9q22.31, which is the long (q) arm of chromosome 9 at position 22.31

Molecular Location: base pairs 92,210,207 to 92,293,756 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q22.31, which is the long (q) arm of chromosome 9 at position 22.31
  • GRIDHH
  • IARS1
  • ILERS
  • ILRS
  • IRS
  • PRO0785