AQP11
Description
The AQP11 (aquaporin 11) is a protein-coding gene located on chromosome 11.
Aquaporin-11 (AQP11) is a channel protein that facilitates the transport of water, glycerol, and hydrogen peroxide across cell and organelle membranes, contributing to intracellular homeostasis in organs such as the liver, kidney, and brain. It plays a role in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through hydrogen peroxide transport across the ER membrane, thereby regulating oxidative stress via the NADPH oxidase 2 pathway. AQP11 contributes to maintaining a suitable environment for translation and protein folding within the ER lumen by participating in the glycosylation processing of PKD1, which regulates PKD1 membrane trafficking and prevents the accumulation of unfolded proteins in the ER. Additionally, AQP11 is involved in proximal tubule function by regulating endosomal acidification and may play a role in postnatal kidney development.
AQP11 is also known as AQPX1.
Associated Diseases
- familial juvenile hyperuricemic nephropathy type 1
- xanthinuria type II
- nephronophthisis
- familial idiopathic steroid-resistant nephrotic syndrome
- karyomegalic interstitial nephritis
- multicystic dysplastic kidney
- Dent disease
- hypoxanthine guanine phosphoribosyltransferase partial deficiency
- C3 glomerulonephritis
- nephrotic syndrome, IIa 26
- familial juvenile hyperuricemic nephropathy type 2
- hereditary renal hypouricemia
- congenital nephrotic syndrome, Finnish type
- nail-patella-like renal disease
