MARS2 gene

methionyl-tRNA synthetase 2, mitochondrial

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

From NCBI Gene:

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

From NCBI Gene:

  • Ataxia, spastic, 3, autosomal recessive
  • Combined oxidative phosphorylation deficiency 25

From UniProt:

Combined oxidative phosphorylation deficiency 25 (COXPD25): A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss. [MIM:616430]

Spastic ataxia 3, autosomal recessive (SPAX3): A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. [MIM:611390]

Cytogenetic Location: 2q33.1, which is the long (q) arm of chromosome 2 at position 33.1

Molecular Location: base pairs 197,705,304 to 197,708,390 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q33.1, which is the long (q) arm of chromosome 2 at position 33.1
  • COXPD25
  • MetRS
  • mtMetRS