SLC12A5 gene

solute carrier family 12 member 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]

From UniProt:

Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).

From NCBI Gene:

  • Early infantile epileptic encephalopathy 34
  • Epilepsy, idiopathic generalized, susceptibility to, 14

From UniProt:

Epileptic encephalopathy, early infantile, 34 (EIEE34): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally. [MIM:616645]

Epilepsy, idiopathic generalized 14 (EIG14): An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. [MIM:616685]

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12

Molecular Location: base pairs 46,021,690 to 46,060,150 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12
  • EIEE34
  • EIG14
  • hKCC2
  • KCC2