solute carrier family 12 member 6; electroneutral K+-chloride cotransporter 3; K-Cl cotransporter 3 (SLC12A6, KCC3)

Function

• mediates electroneutral K+-chloride cotransport
• may be activated by cell swelling
• may contribute to cell volume homeostasis in single cells
• activated by N-ethylmaleimide (NEM)
• inhibited by DIOA, bumetanide & furosemide
• homomultimer & heteromultimer with other K-Cl cotransporters (putative)

Structure

• N-glycosylated
• belongs to the SLC12A transporter family

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• highly expressed in heart, brain & kidney
• detected at lower levels in skeletal muscle, placenta, lung & pancreas
• detected in umbilical vein endothelial cells
• up-regulated by VEGF
• down-regulated by TNF

Pathology

• defects in SLC12A6 are a cause of agenesis of the corpus callosum with peripheral neuropathy (ACCPN)

More general terms

• transmembrane 12 protein
• glycoprotein
• solute carrier family 12 (SLC12, SLC12A)
• phosphoprotein

Additional terms

• Andermann syndrome (Charlevoix' disease)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9990
• OMIM: https://mirror.omim.org/entry/218000
• OMIM: https://mirror.omim.org/entry/604878
• UniProt: http://www.uniprot.org/uniprot/Q9UHW9.html