Disease-gene associations mined from literature

Literature associating CYB5R4 and congenital hemolytic anemia

CYB5R4 [ENSP00000358695]

N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein; NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin.

Synonyms:  CYB5R4,  CYB5R4p,  hCYB5R4,  B2R7W7,  CYB5R4-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM