ANO5 : anoctamin 5
Description
The ANO5 (anoctamin 5) is a protein-coding gene located on chromosome 11.
The ANO5 gene instructs the production of anoctamin-5 protein, a member of the anoctamin family. While its exact function remains unclear, it is believed to act as a chloride channel, crucial for cellular electrical signal transmission. Anoctamins are generally activated by calcium ions, but the exact mechanism of this activation is not fully understood. They also play a role in maintaining and repairing cellular membranes. Anoctamin-5 is most abundant in skeletal muscles, where it regulates chloride flow, influencing muscle contraction and relaxation. It is also found in cardiac muscle and bone cells, suggesting potential involvement in muscle and bone development.
ANO5 is also known as GDD1, LGMD2L, LGMDR12, TMEM16E.
Associated Diseases
- Gnathodiaphyseal dysplasia
- Muscular dystrophy, limb-girdle, type 2L
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Distal anoctaminopathy
- Miyoshi muscular dystrophy 3
- Limb-girdle muscular dystrophy
- Miyoshi myopathy
