The SLC12A6 gene provides instructions for making a protein called KCC3, a K-Cl co-transporter present in several organs. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charged chlorine ions are moved together (co-transported), so that the charges inside and outside the cell membrane are unchanged (electroneutral).
Electroneutral co-transport of ions across cell membranes is involved in many functions of the body. While the specific function of the KCC3 protein is unknown, it seems to be critical for the development and maintenance of nerve tissue and axons, which are specialized extensions of neurons that transmit nerve impulses throughout the nervous system. KCC3 may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The KCC3 protein may also help regulate the activity of other proteins that are sensitive to ion concentrations.
Other Names
ACCPN; DKFZP434D2135; KCC3; KCC3A; KCC3B; potassium chloride cotransporter 3; potassium chloride cotransporter KCC3a-S3; S12A6_HUMAN; solute carrier family 12 (potassium/chloride transporter), member 6; solute carrier family 12 (potassium/chloride transporters), member 6; solute carrier family 12, member 6
Related Genetics Topics
Identifiers
- NCBI Gene: 9990
- OMIM: 604878
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
