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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.
The ANO5 gene provides instructions for making a protein called anoctamin-5. This protein is located within the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. 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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 40 mutations in the ANO5 gene have been identified in people with limb-girdle muscular dystrophy type 2L. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting (atrophy), particularly in the shoulders, hips, thighs, and upper arms.
The ANO5 gene mutations identified in people with limb-girdle muscular dystrophy type 2L change single protein building blocks (amino acids) in the anoctamin-5 protein sequence, disrupt how genetic information is pieced together to make a blueprint for producing the protein, or result in a premature stop signal that leads to an abnormally short protein. One of the mutations adds an extra DNA building block (nucleotide) to the ANO5 gene (written as 191dupA) and is believed to be a relatively common cause of limb-girdle muscular dystrophy in people with northern European ancestry. This mutation alters the instructions used to make the anoctamin-5 protein, leading to a premature stop signal that would produce an abnormally short protein. Instead, a cellular error-catching mechanism called nonsense-mediated decay prevents the protein from being produced at all.
ANO5 gene mutations that eliminate or impair the role of the anoctamin-5 protein as a chloride channel likely lead to impaired muscle function, resulting in the signs and symptoms of limb-girdle muscular dystrophy.
At least 10 mutations in the ANO5 gene have been found to cause Miyoshi myopathy. When caused by mutations in this gene, the condition is also known as distal anoctaminopathy. Miyoshi myopathy is a muscle disorder that is characterized by progressive weakness and atrophy of muscles that are away from the center of the body (distal muscles), particularly those in the legs. The ANO5 gene mutations identified in people with Miyoshi myopathy change single amino acids in the anoctamin-5 protein or result in the production of an abnormally short protein that is quickly broken down.
These mutations result the production of little or no anoctamin-5 protein. The effects of the loss of anoctamin-5 are unclear. While chloride is necessary for normal muscle function, it is unknown how a lack of this chloride channel causes the signs and symptoms of Miyoshi myopathy.
The 191dupA mutation (described above) is also a common cause of Miyoshi myopathy in individuals of northern European ancestry. It is not known why the 191dupA mutation can result in different patterns of signs and symptoms. Miyoshi myopathy caused by ANO5 gene mutations is likely a variation of limb-girdle muscular dystrophy because they are caused by mutations in the same gene, and in some cases even by the same mutation.
At least three ANO5 gene mutations have been identified in people with a bone disorder called gnathodiaphyseal dysplasia. These mutations change single amino acids in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.
Cytogenetic Location: 11p14.3
Molecular Location on chromosome 11: base pairs 22,192,666 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 22,192,666 to base pair 22,283,366 on chromosome 11.
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 ANO5 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.
acids ; atrophy ; calcium ; cardiac ; cell ; channel ; chloride ; chloride channels ; contraction ; distal ; DNA ; dysplasia ; endoplasmic reticulum ; 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 (http://www.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.