产品名称
ANO5 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/203859
Human Swissprot No.
Q75V66
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q75V66/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/233246
Mouse Swissprot No.
Q75UR0
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q75UR0
免疫原
Synthesized peptide derived from human ANO5 AA range: 276-326
特异性
This antibody detects endogenous levels of ANO5 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009],
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.
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. .
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
