Mitochondrial threonyl-tRNA synthetase deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 21
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TARS2 / threonyl-tRNA synthetase 2
  1q21.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Threonyl-tRNA synthetase 2, cytoplasmic
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases