DISEASES

Disease-gene associations mined from literature

Literature associating CFP and X-linked severe combined immunodeficiency

CFP [ENSP00000247153]

Properdin; A positive regulator of the alternate pathway (AP) of complement . It binds to and stabilizes the C3- and C5-convertase enzyme complexes (PubMed:20382442, PubMed:28264884). Inhibits CFI-CFH mediated degradation of Complement C3 beta chain (C3b) .

Synonyms:  CFP,  A0A0S2Z4I5,  C9J7V5,  E9PAQ1,  P27918 ...

Linkouts:  STRING  Pharos  UniProt  OMIM