TARS2 gene

threonyl-tRNA synthetase 2, mitochondrial (putative)

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

From NCBI Gene:

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 21

From UniProt:

Combined oxidative phosphorylation deficiency 21 (COXPD21): A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis. [MIM:615918]

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2

Molecular Location: base pairs 150,487,364 to 150,507,609 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2
  • COXPD21
  • TARSL1
  • thrRS