Aliases for KCTD7 Gene
External Ids for KCTD7 Gene
Previous GeneCards Identifiers for KCTD7 Gene
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]
GeneCards Summary for KCTD7 Gene
KCTD7 (Potassium Channel Tetramerization Domain Containing 7) is a Protein Coding gene. Diseases associated with KCTD7 include Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions and Epilepsy Progressive Myoclonic Type 3. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KCTD6.
UniProtKB/Swiss-Prot Summary for KCTD7 Gene
May be involved in the control of excitability of cortical neurons.