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Reviewed November 2010
What is the official name of the DMPK gene?
The official name of this gene is “dystrophia myotonica-protein kinase.”
DMPK is the gene's official symbol. The DMPK 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 DMPK gene?
The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. Although the specific function of this protein is unknown, it appears to play an important role in muscle, heart, and brain cells. This protein may be involved in communication within cells. It also appears to regulate the production and function of important structures inside muscle cells by interacting with other proteins. For example, myotonic dystrophy protein kinase has been shown to turn off (inhibit) a specific subunit (PPP1R12A) of a muscle protein called myosin phosphatase. Myosin phosphatase is an enzyme that plays a role in muscle tensing (contraction) and relaxation.
One region of the DMPK gene contains a segment of three DNA building blocks (nucleotides) that is repeated multiple times. This sequence, which is written as CTG, is called a triplet or trinucleotide repeat. In most people, the number of CTG repeats in this gene ranges from 5 to 34.
How are changes in the DMPK gene related to health conditions?
Where is the DMPK gene located?
Cytogenetic Location: 19q13.3
Molecular Location on chromosome 19: base pairs 45,769,708 to 45,782,556
The DMPK gene is located on the long (q) arm of chromosome 19 at position 13.3.
More precisely, the DMPK gene is located from base pair 45,769,708 to base pair 45,782,556 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DMPK?
You and your healthcare professional may find the following resources about DMPK 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 DMPK gene or gene products?
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 DMPK?
anticipation ; cell ; congenital ; contraction ; DNA ; enzyme ; gene ; kinase ; messenger RNA ; muscle cells ; muscle, heart ; mutation ; myosin ; phosphatase ; protein ; RNA ; subunit ; trinucleotide repeat ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.