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Reviewed December 2014
What is the official name of the ANO5 gene?
The official name of this gene is “anoctamin 5.”
ANO5 is the gene's official symbol. The ANO5 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 ANO5 gene?
The ANO5 gene provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Chloride channels, which transport negatively charged chlorine atoms (chloride ions) in and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. Studies suggest that most anoctamin proteins function as chloride channels that are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear. Anoctamin proteins are also involved in maintaining the membrane that surrounds cells and repairing the membrane if it gets damaged.
The anoctamin-5 protein is most abundant in muscles used for movement (skeletal muscles). For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. The regulation of chloride flow within muscle cells plays a role in controlling muscle contraction and relaxation.
The anoctamin-5 protein is also found in other cells including heart (cardiac) muscle cells and bone cells. Studies have suggested that the anoctamin-5 protein may be important for the development of muscle and bone before birth.
Does the ANO5 gene share characteristics with other genes?
The ANO5 gene belongs to a family of genes called ANO (anoctamins).
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 ANO5 gene related to health conditions?
Where is the ANO5 gene located?
Cytogenetic Location: 11p14.3
Molecular Location on chromosome 11: base pairs 22,192,512 to 22,283,366
The ANO5 gene is located on the short (p) arm of chromosome 11 at position 14.3.
More precisely, the ANO5 gene is located from base pair 22,192,512 to base pair 22,283,366 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ANO5?
You and your healthcare professional may find the following resources about ANO5 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 ANO5 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 ANO5?
acids ; atrophy ; calcium ; cardiac ; cell ; channel ; chloride ; chloride channels ; contraction ; distal ; DNA ; dysplasia ; gene ; ions ; mineral ; muscle cells ; muscular dystrophy ; mutation ; nucleotide ; protein ; protein sequence ; transmembrane ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.