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Genes in the ANO gene family provide instructions for making proteins called anoctamins. These proteins are found in the outer membrane that surrounds cells or in the membranes of various structures called organelles inside cells. The function of all anoctamins has not been fully explored, but most anoctamins form chloride channels that, when opened by the presence of calcium, allow charged chlorine atoms (chloride ions) to flow in or out of the cell or organelle. In addition to chloride, anoctamins can sometimes transport other ions, including potassium and calcium. Because anoctamins are opened by calcium, they are known as calcium-activated chloride channels, although the mechanism for this activation is unclear.
In addition to being opened by calcium, anoctamins can be opened if the cell becomes too big. The release of chloride ions triggers the release of water from the cell, decreasing cell volume.
Anoctamins are mainly found in cells that line the surfaces of the body (epithelial cells), including cells that line the airways and intestines. They are also found in nerve cells and muscle cells. Anoctamins are involved in releasing water from cells, cell-to-cell communication, and muscle tensing (contraction).
Mutations in ANO genes are generally associated with impaired function of the cells in which they are found. For example, mutations in the ANO5 gene, which is primarily found in muscle cells, lead to a condition called limb-girdle muscular dystrophy type 2L. This condition is characterized by muscle weakness and wasting (atrophy), particularly in the shoulders, hips, thighs, and upper arms.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the ANO family (http://www.genenames.org/genefamilies/CLCNS).
Genetics Home Reference summarizes the normal function and health implications of this member of the ANO gene family: ANO5.
Genetics Home Reference includes these conditions related to genes in the ANO gene family:
You may find the following resources about the ANO gene family helpful.
atrophy ; calcium ; cell ; chloride ; chloride channels ; contraction ; epithelial ; gene ; ions ; muscle cells ; muscular dystrophy ; organelle ; potassium ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the ANO gene family.
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.