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DNAJC19 gene

DnaJ heat shock protein family (Hsp40) member C19
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Normal Function

The DNAJC19 gene provides instructions for producing a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, researchers believe that it helps transport other proteins into and out of mitochondria. The DNAJC19 protein may also assist in the proper assembly and disassembly of certain proteins.

Health Conditions Related to Genetic Changes

Dilated cardiomyopathy with ataxia syndrome

At least two mutations in the DNAJC19 gene have been found to cause dilated cardiomyopathy with ataxia (DCMA) syndrome. This condition is characterized by heart problems, movement difficulties, slow growth, genital abnormalities in males, and other features affecting multiple body systems. DNAJC19 gene mutations lead to the production of an abnormally shortened protein that likely has impaired function. In the Dariusleut Hutterite population of Canada, where DCMA syndrome is most frequently seen, the condition results from a mutation (written as IVS3-1G>C) that causes a disruption in the way the gene's instructions are used to make the DNAJC19 protein, resulting in deletion of part of the protein.

Researchers speculate that a lack of functional DNAJC19 protein alters the transport of proteins into and out of the mitochondria. When too many or too few proteins move in and out of the mitochondria, energy production and mitochondrial survival can be reduced. Tissues that have high energy demands, such as the heart and the brain, are especially susceptible to decreases in cellular energy production. This loss of cellular energy likely damages these and other tissues, leading to heart problems, movement difficulties, and other features of DCMA syndrome.

More About This Health Condition

Other Names for This Gene

  • DnaJ (Hsp40) homolog, subfamily C, member 19
  • homolog of yeast TIM14
  • mitochondrial import inner membrane translocase subunit TIM 14
  • PAM18
  • TIM14
  • TIM14_HUMAN
  • TIMM14
  • translocase of the inner mitochondrial membrane 14

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31. Citation on PubMed or Free article on PubMed Central
  • MacKenzie JA, Payne RM. Mitochondrial protein import and human health and disease. Biochim Biophys Acta. 2007 May;1772(5):509-23. Epub 2006 Dec 9. Review. Citation on PubMed or Free article on PubMed Central
  • Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A, Tyni T. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. doi: 10.1038/pr.2012.92. Epub 2012 Jul 13. Citation on PubMed
  • Sinha D, Joshi N, Chittoor B, Samji P, D'Silva P. Role of Magmas in protein transport and human mitochondria biogenesis. Hum Mol Genet. 2010 Apr 1;19(7):1248-62. doi: 10.1093/hmg/ddq002. Epub 2010 Jan 6. Citation on PubMed or Free article on PubMed Central
  • Sparkes R, Patton D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young. 2007 Apr;17(2):215-7. Epub 2007 Jan 23. Citation on PubMed
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