Disease-gene associations mined from literature

Literature associating RFK and fetal akinesia deformation sequence syndrome

RFK [ENSP00000365926]

ATP:riboflavin 5'-phosphotransferase; Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase.

Synonyms:  RFK,  A0A024R275,  H7C4G0,  Q969G6,  H7C4G0p ...

Linkouts:  STRING  Pharos  UniProt  OMIM