background:
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]
Function:
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.
Subcellular Location:
Mitochondrion inner membrane.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5) [MIM:610198]; 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.
Similarity:
Belongs to the TIM14 family.
Contains 1 J domain.
Database links:
Entrez Gene: 131118 Human
Entrez Gene: 100503724 Mouse
Entrez Gene: 67713 Mouse
Omim: 608977 Human
SwissProt: Q96DA6 Human
SwissProt: Q9CQV7 Mouse
Unigene: 230601 Human
Unigene: 274266 Mouse
Unigene: 389927 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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