SLC12A6 : solute carrier family 12 member 6
Description
The SLC12A6 (solute carrier family 12 member 6) is a protein-coding gene located on chromosome 15.
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.
[Isoform 1]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901, PubMed:11551954, PubMed:10600773, PubMed:19665974, PubMed:18566107, PubMed:21628467, PubMed:27485015). May contribute to cell volume homeostasis in single cells (PubMed:16048901, PubMed:27485015). {ECO:0000269|PubMed:10600773, ECO:0000269|PubMed:11551954, ECO:0000269|PubMed:16048901, ECO:0000269|PubMed:18566107, ECO:0000269|PubMed:19665974, ECO:0000269|PubMed:21628467, ECO:0000269|PubMed:27485015, ECO:0000305|PubMed:16048901}.
SLC12A6 is also known as ACCPN, CMT2II, KCC3, KCC3A, KCC3B.
Associated Diseases
- Charcot-Marie-Tooth disease, axonal, type 2II
- Agenesis of the corpus callosum with peripheral neuropathy
- Corpus callosum agenesis-neuronopathy syndrome
- Charcot-Marie-Tooth disease
- Andermann syndrome
