Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
DNAJC19

DNAJC19

Reviewed July 2014

What is the official name of the DNAJC19 gene?

The official name of this gene is “DnaJ (Hsp40) homolog, subfamily C, member 19.”

DNAJC19 is the gene's official symbol. The DNAJC19 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the DNAJC19 gene?

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.

Does the DNAJC19 gene share characteristics with other genes?

The DNAJC19 gene belongs to a family of genes called DNAJ (heat shock proteins, DNAJ (HSP40)).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the DNAJC19 gene related to health conditions?

dilated cardiomyopathy with ataxia syndrome - caused by mutations in the DNAJC19 gene

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.

Where is the DNAJC19 gene located?

Cytogenetic Location: 3q26.33

Molecular Location on chromosome 3: base pairs 180,983,708 to 180,989,773

The DNAJC19 gene is located on the long (q) arm of chromosome 3 at position 26.33.

The DNAJC19 gene is located on the long (q) arm of chromosome 3 at position 26.33.

More precisely, the DNAJC19 gene is located from base pair 180,983,708 to base pair 180,989,773 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DNAJC19?

You and your healthcare professional may find the following resources about DNAJC19 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DNAJC19 gene or gene products?

  • homolog of yeast TIM14
  • mitochondrial import inner membrane translocase subunit TIM 14
  • PAM18
  • TIM14
  • TIM14_HUMAN
  • TIMM14
  • translocase of the inner mitochondrial membrane 14

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DNAJC19?

ataxia ; cardiomyopathy ; chaperone ; deletion ; dilated ; gene ; mitochondria ; mutation ; population ; protein ; subunit ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: July 2014
Published: April 13, 2015