ANO5
| ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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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Anoctamin 5 (ANO5) is a protein that in humans is encoded by the ANO5 gene.
Function
[edit]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]
Clinical significance
[edit]Mutations in the ANO5 gene are known to cause the following conditions:
- Gnathodiaphyseal dysplasia (GDD), a rare skeletal syndrome.[6]
- Limb Girdle Muscular Dystrophy 2L (LGMD2L, Autosomal Recessive 12)[6][7] and Miyoshi Muscular Dystrophy 3 (MMD3).[6] These forms of muscular dystrophy are inherited in an autosomal recessive pattern. To be affected, a person must have mutations on both copies of the gene. Males and females are equally likely to be affected.
Typical Symptoms
[edit]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]
Other names for this gene
[edit]- ANO5_HUMAN
- anoctamin-5
- GDD1
- gnathodiaphyseal dysplasia 1 protein
- integral membrane protein GDD1
- LGMD2L
- TMEM16E
- transmembrane protein 16E[5]
Chromosal location
[edit]- Cytogenetic location: 11p14.3, which is the short (p) arm of chromosome 11 at position 14.3
- Molecular location: base pairs 22,192,485 to 22,283,367 on chromosome 11 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)
Credit: Genome Decoration Page/NCBI
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000171714 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055489 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c d "ANO5 gene". Genetics Home Reference. US National Library of Medicine. Retrieved 24 July 2018.
This article incorporates text from this source, which is in the public domain.
- ^ a b c d e "UniProt". www.uniprot.org. Retrieved 2023-09-20.
- ^ "Autosomal recessive limb-girdle muscular dystrophy type 2L (Concept Id: C1969785) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-09-20.
Further reading
[edit]- Penttilä S, Palmio J, Udd B (November 2012). "ANO5-Related Muscle Diseases". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Penttilä S, Palmio J, Udd B (eds.). SourceGeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. PMID 23193613.
- "What is LGMD2L?". LGMD2L foundation.
- Online Mendelian Inheritance in Man (OMIM): ANOCTAMIN 5; ANO5 - 608662
- Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. (February 2010). "Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies". American Journal of Human Genetics. 86 (2): 213–21. doi:10.1016/j.ajhg.2009.12.013. PMC 2820170. PMID 20096397.
- Jarmula A, Lusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, et al. (August 2019). "ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure". Scientific Reports. 9 (1): 11533. Bibcode:2019NatSR...911533J. doi:10.1038/s41598-019-47849-3. PMC 6687736. PMID 31395899.