Gene: WARS2

Alternate names for this Gene: NEMMLAS|TrpRS|mtTrpRS

Gene Summary: 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 tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1p12

Description of this Gene: tryptophanyl tRNA synthetase 2, mitochondrial

Type of Gene: protein-coding

Gene: WARS2-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1p12

Description of this Gene: WARS2 antisense RNA 1

Type of Gene: ncRNA

rs139548132 in WARS2;WARS2-AS1 gene and NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES PMID 28905505 2017 Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

PMID 28236339 2017 Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

PMID 28650581 2017 Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.