DISEASES

Disease-gene associations mined from literature

Literature associating RAX and Axenfeld-Rieger syndrome type 1

RAX [ENSP00000334813]

Retina and anterior neural fold homeobox protein; Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter; PRD class homeoboxes and pseudogenes

Synonyms:  RAX,  G3V2C8,  Q9Y2V3,  G3V2C8p,  hG3V2C8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM