功能： disease:Defects in ANO5 are the cause of gnathodiaphyseal dysplasia (GDD) [MIM:166260]; also called osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.,function:May act as a calcium-activated chloride channel.,similarity:Belongs to the anoctamin family.,subcellular location:Co-localized with CALR/calreticulin.,tissue specificity:Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein . Colocalized with CALR/calreticulin (PubMed:15124103). Shows an intracellular localization according to PubMed:22075693. .
组织表达： Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.
功能： disease:Defects in ANO5 are the cause of gnathodiaphyseal dysplasia (GDD) [MIM:166260]; also called osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.,function:May act as a calcium-activated chloride channel.,similarity:Belongs to the anoctamin family.,subcellular location:Co-localized with CALR/calreticulin.,tissue specificity:Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein . Colocalized with CALR/calreticulin (PubMed:15124103). Shows an intracellular localization according to PubMed:22075693. .
组织表达： Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.
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