KCNH1 Chromosome 1

Potassium voltage-gated channel subfamily H member 1
60 variants 60 Health Risk

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What This Gene Does
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|PAS domain containing"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000143473
Associated Conditions (13)
Inborn genetic diseases
Temple-Baraitser syndrome
KCNH1-related disorder
Zimmermann-Laband syndrome 1
KCNH1 associated disorder
Epilepsy
KCNH1-related phenotype
See cases
Neurodevelopmental disorder
Severe intellectual disability
Abnormal facial shape
Seizure
Intellectual disability
Key Variants
All Variants (60)
RSID Category Clinical Significance Conditions
RS727502821 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS727502822 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS730882172 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882173 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882174 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882176 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS2102561827 Health Risk Pathogenic/Likely pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS730882175 Health Risk Pathogenic/Likely pathogenic Zimmermann-Laband syndrome 1, Inborn genetic diseases, See cases
RS878853026 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS886041300 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Severe intellectual disability, Abnormal facial shape
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