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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ANO5, GDD1, LGMD2L, TMEM16E, anoctamin 5, LGMDR12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 608662; MGI: 3576659; HomoloGene: 100071; GeneCards: ANO5; OMA: ANO5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Anoctamin 5 (ANO5) is a protein that in humans is encoded by 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. 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 damaged. [5]
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. [5]
The anoctamin-5 protein is also found in other cells including heart (cardiac) muscle cells and bone cells. The anoctamin-5 protein may be important for the development of muscle and bone before birth. [5]
Mutations in the ANO5 gene are known to cause the following conditions:
GDD causes bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients also experience frequent bone fractures. [6]
Clinically, LGMD2L and MMD3 were considered different diseases before ANO5 was identified as the responsible gene; LGMD was used to describe initial weakness in proximal muscles (hip and shoulder girdles) while MMD described initial weakness in the distal muscles of the lower limbs. [6]
Credit: Genome Decoration Page/NCBI
ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ANO5, GDD1, LGMD2L, TMEM16E, anoctamin 5, LGMDR12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 608662; MGI: 3576659; HomoloGene: 100071; GeneCards: ANO5; OMA: ANO5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Anoctamin 5 (ANO5) is a protein that in humans is encoded by 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. 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 damaged. [5]
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. [5]
The anoctamin-5 protein is also found in other cells including heart (cardiac) muscle cells and bone cells. The anoctamin-5 protein may be important for the development of muscle and bone before birth. [5]
Mutations in the ANO5 gene are known to cause the following conditions:
GDD causes bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients also experience frequent bone fractures. [6]
Clinically, LGMD2L and MMD3 were considered different diseases before ANO5 was identified as the responsible gene; LGMD was used to describe initial weakness in proximal muscles (hip and shoulder girdles) while MMD described initial weakness in the distal muscles of the lower limbs. [6]
Credit: Genome Decoration Page/NCBI