DISEASES

Disease-gene associations mined from literature

Literature associating KCTD5 and progressive myoclonus epilepsy 3

KCTD5 [ENSP00000301738]

Potassium channel tetramerization domain containing 5; Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex. Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4.

Synonyms:  KCTD5,  KCTD5p,  hKCTD5,  H3BSS5,  Q9NXV2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM