Disease-gene associations mined from literature

Literature associating KCTD8 and progressive myoclonus epilepsy 3

KCTD8 [ENSP00000353129]

Potassium channel tetramerization domain containing 8; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity).

Synonyms:  KCTD8,  KCTD8p,  hKCTD8,  B4DQJ9,  Q6ZWB6 ...

Linkouts:  STRING  Pharos  UniProt