Mitochondrial Import Inner Membrane Translocase Subunit TIM14 (DNAJC19) Human Recombinant Protein

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]

DNAJC19: Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity. Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5); also known as dilated cardiomyopathy with ataxia (DCMA). MGA5 is an autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure, and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid. Belongs to the TIM14 family.

Protein type: Membrane protein, integral; Mitochondrial; Chaperone

Chromosomal Location of Human Ortholog: 3q26.33

Cellular Component: protein complex; mitochondrion; mitochondrial inner membrane; integral to membrane

Molecular Function: protein binding

Biological Process: genitalia development; cellular protein metabolic process; protein folding; visual perception; protein targeting to mitochondrion

Disease: 3-methylglutaconic Aciduria, Type V