NARS2 gene

asparaginyl-tRNA synthetase 2, mitochondrial

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

From NCBI Gene:

This gene encodes a putative member of the class II 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 asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 24

From UniProt:

Deafness, autosomal recessive, 94 (DFNB94): A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:618434]

Combined oxidative phosphorylation deficiency 24 (COXPD24): An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. [MIM:616239]

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1

Molecular Location: base pairs 78,435,961 to 78,574,864 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1
  • asnRS
  • DFNB94
  • SLM5