Phospho-AQP2 (S256) Polyclonal Antibody, 100µg, (ATB-P0978)

Background: This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.Product datasheet: Overview Product Description Phospho-AQP2 (S256) Polyclonal Antibody, 100µg, (ATB-P0978) Species Reactivities Human,Mouse,Rat Immunogen Synthesized peptide derived from human AQP2 around the phosphorylation site of S256. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year Clonality Polyclonal References: A decrease in aquaporin 2 excretion is associated with bed rest induced high calciuria. Tamma G, et al. J Transl Med, 2014 May 19. PMID 24885203 Free PMC Article X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking. Frick A, et al. Proc Natl Acad Sci U S A, 2014 Apr 29. PMID 24733887 Free PMC Article New insights into regulated aquaporin-2 function. Fenton RA, et al. Curr Opin Nephrol Hypertens, 2013 Sep. PMID 23852332 Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI. Shida Y, et al. Pediatr Int, 2013 Feb. PMID 23409988 Aquaporin 2: from its discovery to molecular structure and medical implications. Sasaki S. Mol Aspects Med, 2012 Oct-Dec. PMID 23078817 Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Deen P.M.T., Verdijk M.A.J., Knoers V.V.A.M., Wieringa B., Monnens L.A.H., van Os C.H., van Oost B.A.Science 264:92-94(1994) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Isolation of human aquaporin-CD gene. Uchida S., Sasaki S., Fushimi K., Marumo F.J. Biol. Chem. 269:23451-23455(1994) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. van Lieburg A.F., Verdijk M.A.J., Knoers V.V.A.M., van Essen A.J., Proesmans W., Mallmann R., Monnens L.A.H., van Oost B.A., van Os C.H., Deen P.M.T.Am. J. Hum. Genet. 55:648-652(1994) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ANDI ARG-64; CYS-187 AND PRO-216. Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. Sasaki S., Fushimi K., Saito H., Saito F., Uchida S., Ishibashi K., Kuwahara M., Ikeuchi T., Inui K., Nakajima K.J. Clin. Invest. 93:1250-1256(1994) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Kidney. Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. Marr N., Bichet D.G., Lonergan M., Arthus M.-F., Jeck N., Seyberth H.W., Rosenthal W., van Os C.H., Oksche A., Deen P.M.T.Hum. Mol. Genet. 11:779-789(2002) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Kidney.