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Reviewed August 2013
What is the official name of the POMT1 gene?
The official name of this gene is “protein-O-mannosyltransferase 1.”
POMT1 is the gene's official symbol. The POMT1 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 POMT1 gene?
The POMT1 gene provides instructions for making one piece of the protein O-mannosyltransferase (POMT) enzyme complex. The other piece is produced from the POMT2 gene. This enzyme complex is present in many different tissues in the body but is particularly abundant in skeletal muscles, fetal brain, and testes.
The POMT complex helps modify a protein called alpha (α)-dystroglycan. Specifically, this complex adds a sugar molecule called mannose to α-dystroglycan through a process called glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Does the POMT1 gene share characteristics with other genes?
The POMT1 gene belongs to a family of genes called dolichyl D-mannosyl phosphate dependent mannosyltransferases (dolichyl D-mannosyl phosphate dependent mannosyltransferases).
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? in the Handbook.
How are changes in the POMT1 gene related to health conditions?
Genetics Home Reference provides information about limb-girdle muscular dystrophy, which is also associated with changes in the POMT1 gene.
Where is the POMT1 gene located?
Cytogenetic Location: 9q34.1
Molecular Location on chromosome 9: base pairs 131,502,894 to 131,523,805
The POMT1 gene is located on the long (q) arm of chromosome 9 at position 34.1.
More precisely, the POMT1 gene is located from base pair 131,502,894 to base pair 131,523,805 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about POMT1?
You and your healthcare professional may find the following resources about POMT1 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 POMT1 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 POMT1?
cell ; congenital ; cytoskeleton ; disability ; enzyme ; extracellular ; extracellular matrix ; gene ; glycosylation ; mannose ; molecule ; muscle cells ; muscular dystrophy ; neuronal migration ; phosphate ; protein ; RT ; syndrome ; testes ; transferase
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.