Description
Product Characteristics:
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]
Subcellular location: Cytoplasm
Synonyms: DnaJ (Hsp40) homolog, subfamily C, member 19, DnaJ homolog subfamily C member 19, DNAJC19, homolog of yeast TIM14, Mitochondrial import inner membrane translocase subunit TIM14, PAM18, TIM 14, TIM14, TIM14_HUMAN, TIMM 14, TIMM14, translocase of the inner mitochondrial membrane 14, Translocase of the inner mitochondrial membrane 14, yeast homolog of.
Target Information: 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]