DISEASES

Disease-gene associations mined from literature

Literature associating KCTD16 and progressive myoclonus epilepsy 3

KCTD16 [ENSP00000426548]

Potassium channel tetramerization domain-containing protein 16; 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:  KCTD16,  KCTD16p,  hKCTD16,  Q68DU8,  KIAA1317 ...

Linkouts:  STRING  Pharos  UniProt