DISEASES

Disease-gene associations mined from literature

Literature associating KCNH1 and neuromuscular junction disease

KCNH1 [ENSP00000271751]

Potassium voltage-gated channel, subfamily H (eag-related), member 1; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel. Channel properties are modulated by subunit assembly. Mediates IK(NI) current in myoblasts. Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs); Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily.

Synonyms:  KCNH1,  KCNH1p,  hKCNH1,  O95259,  EAG ...

Linkouts:  STRING  Pharos  UniProt  OMIM