Disease-gene associations mined from literature

Literature associating RFXANK and severe combined immunodeficiency

RFXANK [ENSP00000305071]

Regulatory factor X-associated ankyrin-containing protein; Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. May also potentiate the activation of RAF1 (By similarity); Ankyrin repeat domain containing

Synonyms:  RFXANK,  A0A024R7M1,  A0A024R7P0,  F5GY33,  F5H7D2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM