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The official name of this gene is “DnaJ heat shock protein family (Hsp40) member C19.”
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 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.
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 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
Molecular Location on chromosome 3: base pairs 180,983,709 to 180,989,774
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 180,983,709 to base pair 180,989,774 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.
ataxia ; cardiomyopathy ; chaperone ; deletion ; dilated ; gene ; mitochondria ; mutation ; population ; protein ; shock ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference 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.