Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity.
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.
None
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.
None
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the anoctamin family.
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.
GDD1, TMEM16E, ANO5, Anoctamin-5, Gnathodiaphyseal dysplasia 1 protein, Transmembrane protein 16E
Proteins
Cardiovascular
107188Da
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