ANO5
ANO5
A gene on chromosome 11p14.2 that encodes anoctamin 5, a multipass protein that localises to the endoplasmic reticulum and is thought to act as a calcium-activated chloride channel; it is highly expressed in brain, heart, kidney, lung and skeletal muscle.Molecular pathology
ANO5 mutations cause gnathodiaphyseal dysplasia, limb-girdle muscular dystrophy type 2L and Miyoshi muscular dystrophy type 3.