Target intelligence / Profile preview

Potassium voltage-gated channel subfamily H member 7 (KCNH7)

Target
KCNH7
Molecular classification
Ion channel, Voltage-gated potassium channel, Pore-forming (alpha) subunit
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Overview

KCNH7 encodes a voltage-gated potassium channel (subfamily H member 7), also known as HERG3/Kv11.3, which is predominantly expressed in the nervous system and functions as a pore-forming (alpha) subunit of the channel. It plays a critical role in regulating neuronal excitability and neurotransmitter release, as well as other cell membrane potential-dependent functions. KCNH7 exhibits distinctive channel kinetics with fast activation/deactivation and slow inactivation, resulting in a weak inward rectification. Dysfunction or loss-of-function mutations in KCNH7 have been associated with neurodevelopmental and neuropsychiatric disorders, including bipolar spectrum disorder, autism spectrum disorder, and autosomal dominant hearing loss. Its expression is largely restricted to neuronal tissues, and current data support its importance in proper brain function and development. KCNH7 belongs to the ion channel family, specifically the class of voltage-gated potassium channels. There are no well-established small-molecule drugs or clinical biomarkers directly targeting KCNH7 in current practice; its druggability remains an area of investigation.

Other names
HERG3Kv11.3ERG-3Eag-related protein 3Ether-a-go-go-related protein 3hERG-3erg3Ether-a-go-go-related gene potassium channel 3Voltage-gated inwardly rectifying potassium channel KCNH7Voltage-gated potassium channel subunit Kv11.3Potassium channel, voltage-gated eag related subfamily H, member 7
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Biological functions

Regulation of neuronal excitabilityNeurotransmitter releaseControl of membrane potentialSignal transduction(To a lesser extent) Insulin secretionEpithelial electrolyte transportSmooth muscle contractionCell volume regulation
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Disease associations

Neuropsychiatric disorders (e.g., bipolar spectrum disorder)Neurodevelopmental disorders (e.g., intellectual disability, developmental delay, hypotonia)Autism spectrum disorderDeafness, autosomal dominant 16Associated with risk loci for autoimmune diseases (multiple sclerosis, type 1 diabetes; likely indirect)
04

Safety considerations

May contribute to neurologic or neuropsychiatric phenotypes if mutated or deleted—chromosomal deletions including KCNH7 are linked to developmental delay and intellectual disabilityPotential link to neuropsychiatric side effects if modulated (inferred from disease associations)

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