DISEASES

Disease-gene associations mined from literature

Literature associating LRRC52 and hypertrichotic osteochondrodysplasia Cantu type

LRRC52 [ENSP00000294818]

BK channel auxiliary gamma subunit LRRC52; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties.

Synonyms:  LRRC52,  LRRC52p,  hLRRC52,  Q8N7C0,  Q8N7C0p ...

Linkouts:  STRING  Pharos  UniProt  OMIM