IARS2 gene

isoleucyl-tRNA synthetase 2, mitochondrial

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. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

From UniProt:

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS): An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. [MIM:616007]

Cytogenetic Location: 1q41, which is the long (q) arm of chromosome 1 at position 41

Molecular Location: base pairs 220,094,113 to 220,148,041 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q41, which is the long (q) arm of chromosome 1 at position 41
  • CAGSSS
  • ILERS