Aliases for KCTD7 Gene
External Ids 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 Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. An important paralog of this gene is GAPVD1.
UniProtKB/Swiss-Prot for KCTD7 Gene
May be involved in the control of excitability of cortical neurons.