ANO5

Ideogram human chromosome 11

ANO5

ANO5 is a gene that encodes a protein known as Anoctamin-5. This protein is a member of the Anoctamin family, which consists of transmembrane proteins involved in ion transport and regulation. ANO5 is primarily expressed in skeletal muscle tissue and plays a role in muscle function and maintenance.

Function

ANO5 functions as a calcium-activated chloride channel, regulating the flow of chloride ions across cell membranes. This activity is important for maintaining proper muscle membrane potential and contractility. Mutations in the ANO5 gene have been associated with various muscle disorders, including limb-girdle muscular dystrophy and gnathodiaphyseal dysplasia.

Clinical Significance

Mutations in the ANO5 gene can lead to muscle weakness, atrophy, and degeneration. Individuals with ANO5-related muscle disorders may experience difficulty with movement, muscle cramps, and respiratory problems. Diagnosis of these conditions typically involves genetic testing and muscle biopsies to assess ANO5 expression and function.

Research

Research on ANO5 continues to explore its role in muscle physiology and the pathogenesis of muscle disorders. Studies aim to elucidate the mechanisms by which ANO5 mutations disrupt muscle function and identify potential therapeutic targets for these conditions.

See also

• Anoctamin
• Muscle disorders
• Limb-girdle muscular dystrophy
• Gnathodiaphyseal dysplasia