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The official name of this gene is “ATPase, H+ transporting, lysosomal V0 subunit a2.”
ATP6V0A2 is the gene's official symbol. The ATP6V0A2 gene is also known by other names, listed below.
The ATP6V0A2 gene provides instructions for making one part, the a2 subunit, of a large protein complex (a group of proteins that work together). This protein complex is known as a vacuolar H+-ATPase (V-ATPase). A V-ATPase acts as a pump to move positively charged hydrogen atoms (protons) across cell membranes.
V-ATPases are embedded in the membranes surrounding cells, where they transport protons into and out of cells. This movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.
Within cells, V-ATPases help regulate the pH of particular cell compartments. These compartments include endosomes and lysosomes, which digest and recycle materials that the cell no longer needs. Studies suggest that V-ATPases are also involved in the movement (trafficking) of small sac-like structures called vesicles. Vesicles transport many types of molecules within cells.
V-ATPases also play a key role in a complex process called glycosylation, in which proteins are modified by adding sugar molecules. Glycosylation is necessary for the normal function of many different kinds of proteins. V-ATPases regulate the pH of a cellular structure called the Golgi apparatus, where glycosylation occurs.
The ATP6V0A2 gene belongs to a family of genes called ATP (ATPases).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least 18 mutations in the ATP6V0A2 gene have been identified in people with cutis laxa. ATP6V0A2 mutations cause a form of the disorder called autosomal recessive cutis laxa type II, which is characterized by loose, sagging skin and distinctive facial features. Some affected individuals also have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.
Mutations in the ATP6V0A2 gene prevent the cell from producing a functional a2 subunit, which disrupts the normal function of V-ATPases. It is unclear how these genetic changes cause the signs and symptoms of cutis laxa. Researchers suspect that changes in V-ATPase function may disrupt the normal glycosylation of proteins, including several that are involved in the assembly and maintenance of elastic fibers. Elastic fibers are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). People with cutis laxa have a reduced density of elastic fibers, which weakens connective tissue in the skin, lungs, and other organs. These defects in connective tissue underlie many of the major features of the disorder.
Cytogenetic Location: 12q24.31
Molecular Location on chromosome 12: base pairs 123,712,317 to 123,761,754
The ATP6V0A2 gene is located on the long (q) arm of chromosome 12 at position 24.31.
More precisely, the ATP6V0A2 gene is located from base pair 123,712,317 to base pair 123,761,754 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ATP6V0A2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acidity ; autosomal ; autosomal recessive ; cell ; congenital ; connective tissue ; disability ; elastic ; endosomes ; gene ; glycosylation ; Golgi apparatus ; pH ; protein ; proton ; recessive ; subunit ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.