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The protein encoded by RARS2 is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Additionally we are shipping RARS2 Antibodies (9) and RARS2 Proteins (3) and many more products for this protein.
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 (show RARS ELISA Kits), 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