potassium voltage-gated channel subfamily H member 1 | OKDB#: 5899 |
Symbols: | KCNH1 | Species: | human | ||
Synonyms: | EAG, EAG1, ZLS1, hEAG, TMBTS, h-eag, hEAG1, Kv10.1 | Locus: | 1q32.2 in Homo sapiens |
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General Comment | NCBI Summary: 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] | ||||
General function | Channel/transport protein | ||||
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Cellular localization | Plasma membrane | ||||
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Ovarian function | |||||
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Ovarian localization | Oocyte | ||||
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Follicle stages | |||||
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Phenotypes |
PCO (polycystic ovarian syndrome) |
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Mutations | 0 mutations | ||||
Genomic Region | show genomic region | ||||
Phenotypes and GWAS | show phenotypes and GWAS | ||||
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created: | Jan. 20, 2021, 8:02 p.m. | by: |
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last update: | Jan. 20, 2021, 8:03 p.m. | by: | hsueh email: |
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