Gene Symbol | KCNC1 |
Entrez Gene ID | 3746 |
Full Name | potassium voltage-gated channel subfamily C member 1 |
Synonyms | EPM7,KV3.1,KV4,NGK2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both 'b' and 'alpha', while the shorter isoform has been called both 'a' and 'beta' (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, progressive myoclonic 7, 616187 (3) |