DISEASES

Disease-gene associations mined from literature

Literature associating CYBB and alcoholic cardiomyopathy

CYBB [ENSP00000367851]

Superoxide-generating NADPH oxidase heavy chain subunit; Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.

Synonyms:  CYBB,  F5GWU5,  G8Z8Y8,  P04839,  F5GWU5p ...

Linkouts:  STRING  Pharos  UniProt  OMIM