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Description
DNAJC19 Monoclonal Antibody (3H4). The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
Immunogen
n/a
Other Names
Mitochondrial import inner membrane translocase subunit TIM14; DnaJ homolog subfamily C member 19; TIMM14; TIM14; DNAJC19