SLC12A6

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.

Full Name

Solute Carrier Family 12 Member 6

Function

Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.

Biological Process

Biological Process ammonium import across plasma membraneManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process angiogenesis1 PublicationNAS:UniProtKB
Biological Process cell volume homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular hypotonic responseIMP:ParkinsonsUK-UCL
Biological Process cellular hypotonic salinity responseManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular response to glucose stimulusIEA:Ensembl
Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process chloride ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process chloride transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process potassium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process potassium ion import across plasma membraneManual Assertion Based On ExperimentIDA:ParkinsonsUK-UCL

Cellular Location

Basolateral cell membrane

Involvement in disease

Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN):
A disease that is characterized by severe progressive sensorimotor neuropathy, intellectual disability, dysmorphic features and complete or partial agenesis of the corpus callosum.

Topology

Cytoplasmic: 1-185
Helical: 186-208
Extracellular: 209-223
Helical: 224-245
Cytoplasmic: 246-271
Helical: 272-295
Extracellular: 296-318
Helical: 319-343
Cytoplasmic: 344-346
Helical: 347-371
Extracellular: 372-479
Helical: 480-501
Cytoplasmic: 502-515
Helical: 516-543
Extracellular: 544-557
Helical: 558-581
Cytoplasmic: 582-620
Helical: 621-644
Extracellular: 645-647
Helical: 648-670
Cytoplasmic: 671-676
Helical: 677-695
Extracellular: 696
Helical: 697-719
Cytoplasmic: 720-1150

PTM

N-glycosylated.