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Reviewed April 2011
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 that are believed to function as calcium-activated 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 the anoctamin proteins function as chloride channels that are turned on (activated) in the presence of positively charged calcium atoms (calcium ions), although the mechanism for this activation is not clear.
Chloride channels have many functions throughout the body. 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. Muscle contraction and relaxation are controlled by the flow of certain ions into and out of muscle cells. Chloride channels spanning the muscle cell membrane control the flow of chloride ions into these cells.
The anoctamin 5 protein is also found in the muscle cells of the heart and in bone cells.
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 22,214,198 to 22,304,912
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 22,214,198 to base pair 22,304,912 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 ; amino acid ; calcium ; cell ; cell membrane ; channel ; chloride ; chloride channels ; contraction ; distal ; dysplasia ; gene ; ions ; mineral ; muscular dystrophy ; mutation ; protein ; protein sequence ; proximal ; transmembrane ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.