Disease-gene associations mined from literature

Literature associating KCNU1 and progressive myoclonus epilepsy 8

KCNU1 [ENSP00000382770]

Calcium-activated potassium channel, subfamily M subunit alpha-3; Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina; Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa5.1/KCNU1 sub-subfamily.

Synonyms:  KCNU1,  KCNU1p,  hKCNU1,  A8MYU2,  E5RGP7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM