CARS2 gene

cysteinyl-tRNA synthetase 2, mitochondrial (putative)

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

From NCBI Gene:

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 27

From UniProt:

Combined oxidative phosphorylation deficiency 27 (COXPD27): An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing. [MIM:616672]

Cytogenetic Location: 13q34, which is the long (q) arm of chromosome 13 at position 34

Molecular Location: base pairs 110,641,410 to 110,713,527 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q34, which is the long (q) arm of chromosome 13 at position 34
  • COXPD27
  • cysRS