Gene Symbol | KCTD7 |
Entrez Gene ID | 154881 |
Full Name | potassium channel tetramerization domain containing 7 |
Synonyms | CLN14,EPM3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3) |