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Reviewed July 2010
What is the official name of the PYGM gene?
The official name of this gene is “phosphorylase, glycogen, muscle.”
PYGM is the gene's official symbol. The PYGM 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 PYGM gene?
The PYGM gene provides instructions for making an enzyme called myophosphorylase. This enzyme breaks down a complex sugar called glycogen. Myophosphorylase is one of three related enzymes called glycogen phosphorylases that break down glycogen in cells. Myophosphorylase is found only in muscle cells, where it breaks down glycogen into a simpler sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells.
How are changes in the PYGM gene related to health conditions?
Where is the PYGM gene located?
Cytogenetic Location: 11q12-q13.2
Molecular Location on chromosome 11: base pairs 64,746,388 to 64,760,714
The PYGM gene is located on the long (q) arm of chromosome 11 between positions 12 and 13.2.
More precisely, the PYGM gene is located from base pair 64,746,388 to base pair 64,760,714 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PYGM?
You and your healthcare professional may find the following resources about PYGM 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 PYGM 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 PYGM?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.