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The protein encoded by RARS2 is an arginyl-tRNA synthetase that is found in the mitochondrial matrix.
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Characteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations
RARS2 gene mutations can cause a metabolic neurodegenerative disease manifesting primarily as early onset epileptic encephalopathies with post-natal microcephaly, without pontocerebellar hypoplasia.
Mutations in the RARS2 promoter are likely to represent a new causal mechanism of pontocerebellar hypoplasia.
Molecular investigations of RARS2 disclosed the c.25A>G/p.I9V and the c.1586+3A>T in family A.
mutations in the gene encoding mitochondrial arginyl-tRNA synthetase (zeige RARS Antikörper), RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report]
The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6).
, arginine--tRNA ligase
, probable arginine--tRNA ligase, mitochondrial
, probable arginyl-tRNA synthetase, mitochondrial
, arginyl-tRNA synthetase 2, mitochondrial (putative)
, arginyl-tRNA synthetase 2, mitochondrial
, arginine-tRNA ligase