DISEASES

Disease-gene associations mined from literature

Literature on KCNH1

KCNH1 [ENSP00000271751]

Potassium voltage-gated channel subfamily H member 1; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660). 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) . ECO:0000269|PubMed:11943152, ECO:0000269|PubMed:22732247, ECO:0000269|PubMed:23881642, ECO:0000269|PubMed:25556795, ECO:0000269|PubMed:27005320, ECO:0000269|PubMed:27325704,; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily.

Synonyms:  KCNH1,  KCNH1p,  hKCNH1,  A0A0S1TJ81,  A0A1W2PNI2 ...

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