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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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
aciduria ; ataxia ; cardiomyopathy ; cytosine ; dilated ; DNA ; exon ; gene ; guanine ; mitochondria ; mutation ; nucleotide ; population ; protein ; subunit
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.