DISEASES

Disease-gene associations mined from literature

Literature associating HEPH and aceruloplasminemia

HEPH [ENSP00000430620]

Hephaestin; May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.

Synonyms:  HEPH,  B4DFV3,  E7ES21,  F8WBZ8,  HEPH-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM