PARS2 gene

prolyl-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 proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75

From UniProt:

Epileptic encephalopathy, early infantile, 75 (EIEE75): A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. [MIM:618437]

Cytogenetic Location: 1p32.3, which is the short (p) arm of chromosome 1 at position 32.3

Molecular Location: base pairs 54,756,898 to 54,764,523 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1p32.3, which is the short (p) arm of chromosome 1 at position 32.3
  • EIEE75
  • MT-PRORS
  • proRS