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FLASH GENE

Symbol

SLC12A5

contributors: mct/npt/pgu - updated : 24-10-2015

HGNC name	solute carrier family 12, (potassium-chloride transporter) member 5
HGNC id	13818

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE34

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   resulted in fewer mature spontaneously active spinal neurons, more immature silent neurons, and disrupted motor activity constitutional     --low   in mature neurons in several pathological conditions, including epilepsy and neuropathic pain constitutional     --low   in the postmortem hippocampus of patients with schizophrenia constitutional     --low   reduced SLC12A5/SLC12A2 ratio in the cerebrospinal fluid of Rett Syndrome patients, suggesting a disturbed process of GABAergic neuronal maturation

Susceptibility

to febrile seizures

Variant & Polymorphism other	KCC2-R952H is a bona fide susceptibility variant for febrile seizures (pMID: 24668262)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology     up-regulation of SLC12A5 function by targeting HTR2A, has therapeutic potential in the treatment of neurological disorders involving altered chloride homeostasis

ANIMAL & CELL MODELS

two neuron-specific isoforms (KCC2a and KCC2b) in mice. Kcc2a expression in the absence of Kcc2b is presumably sufficient to support vital neuronal functions in the brain stem and spinal cord