Disease-gene associations mined from literature

Literature associating KCNH3 and hypertrichotic osteochondrodysplasia Cantu type

KCNH3 [ENSP00000257981]

Potassium voltage-gated channel, subfamily H (eag-related), member 3; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.2/KCNH3 sub-subfamily.

Synonyms:  KCNH3,  KCNH3p,  hKCNH3,  Q8N500,  Q9ULD8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM