Anoctamin 5 (ANO5)

Anoctamin 5 (ANO5) is a transmembrane protein predominantly expressed in skeletal muscle, cardiac muscle, and bone cells, encoded by the ANO5 gene[1][2][5][7]. It belongs to the anoctamin (TMEM16) family, many members of which function as calcium-activated chloride channels, but the specific channel activity of ANO5 remains only putative[1][3][5][7]. ANO5 is crucial for **phospholipid scrambling**, **plasma membrane repair**, and maintenance of calcium homeostasis in muscle and bone cells[1][3][4][5]. Deficiency or mutations in ANO5 are linked to **limb-girdle muscular dystrophy type 2L (LGMD2L)**, **Miyoshi muscular dystrophy type 3 (MMD3)**, and the bone disorder **gnathodiaphyseal dysplasia (GDD)**[2][5]. It is required for efficient membrane resealing after injury in muscle fibers; loss of its function impairs this process and contributes to muscle degenerative diseases[1][5]. In bone cells, ANO5 also modulates autophagy and bone remodeling processes[6]. The protein’s full mechanisms and potential as a therapeutic target are still under investigation; there are currently no approved drugs directly targeting it[1][5][7].

Other names

Anoctamin 5ANO5TMEM16ETransmembrane protein 16EGDD1LGMDR12LGMD2Llimb-girdle muscular dystrophy type 2L protein