solute carrier family 12 member 1
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L SLC12A1 gene provides instructions for making a protein known as NKCC2. This protein is a Na+/K+/2Cl- cotransporter, which means that it moves charged atoms (ions) of sodium (Na+), potassium (K+), and chlorine (Cl-) into cells.
Normal function
L SLC12A1 gene provides instructions for making a protein known as NKCC2. This protein is a Na+/K+/2Cl- cotransporter, which means that it moves charged atoms (ions) of sodium (Na+), potassium (K+), and chlorine (Cl-) into cells.
The NKCC2 protein is essential for normal kidney function. The NKCC2 protein works with other transport proteins to regulate the movement of ions into and out of kidney cells. Together, these proteins provide the mechanism by which kidneys reabsorb salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.
Conditions referring to this gene or chromosome
Altri nomi
BSC1
bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
kidney-specific Na-K-Cl symporter
Na-K-2Cl cotransporter
NKCC2
S12A1_HUMAN
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
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Ulteriori letture e riferimenti
- solute carrier family 12 member 1; MedlinePlus, National Library of Medicine.
- Gamba G, Friedman PA. Thick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSR. Pflugers Arch. 2009 May;458(1):61-76. doi: 10.1007/s00424-008-0607-1. Epub 2008 Nov 4.
- Haas M. The Na-K-Cl cotransporters. Am J Physiol. 1994 Oct;267(4 Pt 1):C869-85. doi: 10.1152/ajpcell.1994.267.4.C869.
- Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008 May;40(5):592-599. doi: 10.1038/ng.118. Epub 2008 Apr 6.
- Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996 Jun;13(2):183-8. doi: 10.1038/ng0696-183.
- Starremans PG, Kersten FF, Knoers NV, van den Heuvel LP, Bindels RJ. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol. 2003 Jun;14(6):1419-26. doi: 10.1097/01.asn.0000064948.39199.a0.
- Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschenes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872.
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