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Reviewed July 2010
What is the official name of the PMM2 gene?
The official name of this gene is “phosphomannomutase 2.”
PMM2 is the gene's official symbol. The PMM2 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 PMM2 gene?
The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). This enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Oligosaccharides are made up of many small sugar molecules that are attached to one another in a long chain. Glycosylation modifies proteins so they can perform a wider variety of functions. In one of the early steps of glycosylation, the PMM2 enzyme converts a molecule called mannose-6-phosphate to mannose-1-phosphate. Subsequently, mannose-1-phosphate is converted into GDP-mannose, which can transfer its small sugar molecule called mannose to the growing oligosaccharide chain. Once the correct number of small sugar molecules are linked together to form the oligosaccharide, it can be attached to a protein.
How are changes in the PMM2 gene related to health conditions?
Where is the PMM2 gene located?
Cytogenetic Location: 16p13
Molecular Location on chromosome 16: base pairs 8,797,812 to 8,855,196
The PMM2 gene is located on the short (p) arm of chromosome 16 at position 13.
More precisely, the PMM2 gene is located from base pair 8,797,812 to base pair 8,855,196 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PMM2?
You and your healthcare professional may find the following resources about PMM2 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 PMM2 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 PMM2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.