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DNAJC19
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DNAJC19

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Reviewed November 2007

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 that is active in the energy-producing centers in cells (mitochondria). Researchers believe that this protein helps transport other proteins into and out of these cellular structures. It is also thought that the DNAJC19 protein assists in the proper assembly and disassembly of some proteins.

Does the DNAJC19 gene share characteristics with other genes?

The DNAJC19 gene belongs to a family of genes called DNAJ (DnaJ (Hsp40) homologs).

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?

3-methylglutaconic aciduria - caused by mutations in the DNAJC19 gene

At least one mutation in the DNAJC19 gene has been shown to cause 3-methylglutaconic aciduria type V, also called dilated cardiomyopathy with ataxia (DCMA). The known mutation changes one DNA building block (nucleotide) in the gene. Specifically, the mutation substitutes the nucleotide guanine for the nucleotide cytosine near the end of an area of the gene called exon 3 (written as IVS3-1G>C). This genetic change causes a disruption in the way the gene's instructions are used to make the DNAJC19 protein. 3-methylglutaconic aciduria type V is seen only in the genetically isolated Hutterite population of Canada and the northern United States. Researchers have not determined how the IVS3-1G>C mutation leads to the signs and symptoms of this disorder.

Where is the DNAJC19 gene located?

Cytogenetic Location: 3q26.33

Molecular Location on chromosome 3: base pairs 180,701,496 to 180,707,561

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 180,701,496 to base pair 180,707,561 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
  • TIM14
  • TIM14_HUMAN
  • TIMM14
  • translocase of the inner mitochondrial membrane 14

See How are genetic conditions and genes named? in the Handbook.

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?

aciduria ; ataxia ; cardiomyopathy ; cell ; cytosine ; dilated ; DNA ; exon ; gene ; guanine ; homologs ; mitochondria ; mutation ; nucleotide ; population ; protein ; sign ; subunit ; symptom

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

See also Understanding Medical Terminology.

References (5 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: November 2007
Published: May 21, 2012