DISEASES

Disease-gene associations mined from literature

Literature associating HFE2 and aceruloplasminemia

HFE2 [ENSP00000337014]

Hemochromatosis type 2 (juvenile); Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis; Belongs to the repulsive guidance molecule (RGM) family.

Synonyms:  HFE2,  HFE2p,  hHFE2,  A0A024R4F5,  A8K466 ...

Linkouts:  STRING  Pharos  UniProt  OMIM