Unlock Exclusive Discounts & Flash Sales! Click Here to Join the Deals on Every Wednesday!
Official Full Name: anoctamin 5
Also known as: GDD1; LGMD2L; LGMDR12; TMEM16E
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described.