Myotonin-protein kinase
Myotonin-protein kinase (also known as DMRK or DMPK) is a serine/threonine-protein kinase that is encoded by the DMPK gene in humans. This protein plays a crucial role in muscle function and has been linked to a type of muscular dystrophy known as Myotonic dystrophy.
Function[edit | edit source]
Myotonin-protein kinase is involved in myocyte differentiation and the regulation of myotonic dystrophy symptoms. It is a member of the protein kinase family, which are enzymes that modify other proteins by chemically adding phosphate groups to them. This process, known as phosphorylation, is a common method of regulating protein function.
Structure[edit | edit source]
The DMPK gene is located on the long (q) arm of chromosome 19 at position 13.3. The protein encoded by this gene is a serine/threonine kinase, meaning it phosphorylates proteins on serine or threonine residues. The protein is approximately 70 kDa in size and is primarily expressed in skeletal muscle.
Clinical significance[edit | edit source]
Mutations in the DMPK gene are associated with myotonic dystrophy type 1 (DM1), a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The mutation involves an expansion of a CTG trinucleotide repeat in the non-coding region of the DMPK gene. This repeat expansion leads to a decrease in the expression of the DMPK protein, which in turn leads to the symptoms of myotonic dystrophy.
See also[edit | edit source]
References[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD