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Reviewed February 2011
What is the official name of the KCNJ1 gene?
The official name of this gene is “potassium channel, inwardly rectifying subfamily J, member 1.”
KCNJ1 is the gene's official symbol. The KCNJ1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the KCNJ1 gene?
The 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.
Does the KCNJ1 gene share characteristics with other genes?
The KCNJ1 gene belongs to a family of genes called KCN (potassium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the KCNJ1 gene related to health conditions?
Where is the KCNJ1 gene located?
Cytogenetic Location: 11q24
Molecular Location on chromosome 11: base pairs 128,838,013 to 128,867,372
The KCNJ1 gene is located on the long (q) arm of chromosome 11 at position 24.
More precisely, the KCNJ1 gene is located from base pair 128,838,013 to base pair 128,867,372 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNJ1?
You and your healthcare professional may find the following resources about KCNJ1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the KCNJ1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding KCNJ1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.