RARS2 gene
The RARS2 gene encodes a mitochondrial enzyme essential for protein production, and mutations in this gene are linked to severe developmental disorders like pontocerebellar hypoplasia.
Normal Function
The RARS2 gene provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase. This enzyme is active in cell structures called mitochondria, which convert the energy from food into a form that cells can use.
Mitochondrial arginyl-tRNA synthetase interacts with a molecule called transfer RNA (tRNA). This molecule helps assemble protein building blocks called amino acids into functioning proteins. Specifically, this enzyme links the amino acid arginine to the tRNA molecule, which then incorporates it into new proteins in mitochondria.
Health Conditions Related to Genetic Changes
Pontocerebellar hypoplasia
At least 13 mutations in the RARS2 gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and intellectual disability.
- Most known RARS2 mutations cause pontocerebellar hypoplasia type 6 (PCH6).
- One mutation has been found in an individual with features of pontocerebellar hypoplasia type 1 (PCH1).
Mutations in this gene significantly reduce or eliminate the function of mitochondrial arginyl-tRNA synthetase, which likely disrupts the production of new proteins in mitochondria.
Other Names for This Gene
- arginine-tRNA ligase
- arginyl-tRNA synthetase 2, mitochondrial precursor
- arginyl-tRNA synthetase-like
- ArgRS
- DALRD2
- dJ382I10.6
- MGC14993
- MGC23778
- PRO1992
- RARSL
- SYRM_HUMAN
Genomic Location
The RARS2 gene is found on chromosome 6.