AQP4, Aquaporin-4, AQP-4, Mercurial-insensitive water channel, MIWC, WCH4
This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015],domain:Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).,function:Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.,similarity:Belongs to the MIP/aquaporin (TC 1.A.8) family.,tissue specificity:Brain - muscle >> heart, kidney, lung, and trachea.,
