Immunogen
Synthesized peptide derived from human ANO5 AA range: 276-326
Specificity
This antibody detects endogenous levels of ANO5 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
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 extr
Gene Name
ANO5 GDD1 TMEM16E
Human protein sequence Database
Q75V66
Mouse protein sequence database
Q75UR0
Rat protein sequence database
Cellular localization
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. .
Tissue expression
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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