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Rabbit Anti-SLC12A3/FITC Conjugated antibody
background:
Na-K-Cl cotransporters (NKCC) are channel proteins that aid in the transcellular movement of chloride across both secretory and absorptive epithelia. NKCC1 is expressed in muscle cells, neurons, and red blood cells. In the basolateral membrane of secretory epithelia, NKCC1 mediates active chloride secretion. The gene encoding human NKCC1 maps to chromosome 5q23.3. In mice, disruption of the NKCC1 gene leads to deafness and impaired balance. NKCC2 is specifically expressed in the kidney where it mediates active reabsorption of sodium chloride in the thick ascending limb of the loop of Henle. NKCC2 is sensitive to the clinically important diuretics furosemide and bumetanide. The gene encoding human NKCC2 maps to chromosome 15q15-q21 and mutations in this gene lead to Bartter’s syndrome, an inherited hypokalaemic alkalosis. NCCT is a thiazide-sensitive Na-Cl cotransporter that is primarily expressed in the distal convoluted tubule of the kidney where it accounts for a significant fraction of net renal sodium reabsorption. The gene for human NCCT map to chromosome 16q13. Mutations in the gene encoding NCCT cause Gitelman’s syndrome, a subset of Bartter’s syndrome.
Function:
Electrically silent transporter system. Mediates sodium and chloride reabsorption.
Subunit:
Interacts with KLHL3.
Subcellular Location:
Membrane.
Tissue Specificity:
Predominant in kidney.
Post-translational modifications:
Ubiquitinated; ubiquitination is essential for regulation of endocytosis (By similarity). May be ubiquitinated by the BCR(KLHL3) complex.
DISEASE:
Defects in SLC12A3 are the cause of Gitelman syndrome (GS). GS is an autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. GS has overlapping features with Bartter syndrome.
Similarity:
Belongs to the SLC12A transporter family.
Database links:
Entrez Gene: 6559 Human
Entrez Gene: 20497 Mouse
Entrez Gene: 54300 Rat
Omim: 600968 Human
SwissProt: P55017 Human
SwissProt: P59158 Mouse
SwissProt: P55018 Rat
Unigene: 669115 Human
Unigene: 25804 Mouse
Unigene: 10467 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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