DNAJC19 gene

DnaJ heat shock protein family (Hsp40) member C19

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.

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.

Cytogenetic Location: 3q26.33, which is the long (q) arm of chromosome 3 at position 26.33

Molecular Location: base pairs 180,983,709 to 180,989,774 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q26.33, which is the long (q) arm of chromosome 3 at position 26.33
  • DnaJ (Hsp40) homolog, subfamily C, member 19
  • homolog of yeast TIM14
  • mitochondrial import inner membrane translocase subunit TIM 14
  • PAM18
  • TIM14
  • TIMM14
  • translocase of the inner mitochondrial membrane 14