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.
Other Names
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
Related Genetics Topics
Identifiers
- NCBI Gene: 3758
- OMIM: 600359
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
