potassium inwardly rectifying channel subfamily J member 1
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El KCNJ1 gene belongs to a large family of genes that produce potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
El KCNJ1 gene belongs to a large family of genes that produce potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with the KCNJ1 protein, also known as ROMK, are predominantly found in the kidneys. ROMK is one of several proteins that work together to regulate the movement of ions into and out of kidney cells. In particular, the transport of potassium ions by ROMK is necessary for the normal function of another ion transporter called NKCC2 (which is produced from the SLC12A1 gene). This transporter plays an essential role in the reabsorption of 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
Otros nombres
ATP-regulated potassium channel ROM-K
ATP-sensitive inward rectifier potassium channel 1
inward rectifier K(+) channel Kir1.1
inwardly rectifying K+ channel
IRK1_HUMAN
KIR1.1
potassium channel, inwardly rectifying subfamily J member 1
potassium channel, inwardly rectifying subfamily J, member 1
potassium inwardly-rectifying channel, subfamily J, member 1
ROMK
ROMK1
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Lecturas adicionales y referencias
- potassium inwardly rectifying channel subfamily J member 1; MedlinePlus, National Library of Medicine.
- Derst C, Konrad M, Kockerling A, Karolyi L, Deschenes G, Daut J, Karschin A, Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem Biophys Res Commun. 1997 Jan 23;230(3):641-5. doi: 10.1006/bbrc.1996.6024.
- Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M. Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int. 2001 May;59(5):1803-11. doi: 10.1046/j.1523-1755.2001.0590051803.x.
- 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.
- Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003 Sep;64(3):923-32. doi: 10.1046/j.1523-1755.2003.00153.x.
- Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996 Oct;14(2):152-6. doi: 10.1038/ng1096-152.
- Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension. 2008 Jun;51(6):1658-64. doi: 10.1161/HYPERTENSIONAHA.108.112664. Epub 2008 Apr 28.
- Welling PA, Ho K. A comprehensive guide to the ROMK potassium channel: form and function in health and disease. Am J Physiol Renal Physiol. 2009 Oct;297(4):F849-63. doi: 10.1152/ajprenal.00181.2009. Epub 2009 May 20.
Historial del artículo
Artículo también disponible en Inglés, Alemán, Español, Francés, Italiano, Portugués, Hindi, Hebreo, Árabe, y Sueco.
12 de abril de 2023 | Última versión
1 Feb 2011 | Publicado originalmente
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