Function
Plays a role in plasma membrane repair in a process involving annexins. Does not exhibit calcium-activated chloride channel (CaCC) activity.
Biological Context
Subcellular Location: Endoplasmic reticulum membrane (Multi-pass membrane protein); Cell membrane (Multi-pass membrane protein)
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
Disease Association: Gnathodiaphyseal dysplasia (GDD) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) : An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. [The disease is caused by variants affecting the gene represented in this entry] | Miyoshi muscular dystrophy 3 (MMD3) : A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Anoctamin-5 (ANO5), partial is a recombinant protein from Homo sapiens (Human), expressed in Mammalian cell, covering amino acids 1-299aa, with C-terminal 10xHis-tagged tag, molecular weight 39.0kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
