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Rabbit Anti-Aquaporine 2/FITC Conjugated antibody
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.
Function:
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.
Subcellular Location:
Apical cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein.
Tissue Specificity:
Expressed in renal collecting tubules. Belongs to the MIP/aquaporin (TC 1.A.8) family.
Post-translational modifications:
Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.
DISEASE:
Defects in AQP2 are the cause of diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]; also known as diabetes insipidus nephrogenic type 2. ANDI is caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.
Similarity:
Belongs to the MIP/aquaporin (TC 1.A.8) family.
Database links:
Entrez Gene: 359 Human
Entrez Gene: 11827 Mouse
Entrez Gene: 25386 Rat
Omim: 107777 Human
SwissProt: P41181 Human
SwissProt: P51282 Mouse
SwissProt: P34080 Rat
Unigene: 130730 Human
Unigene: 20206 Mouse
Unigene: 90076 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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