DISEASES

Disease-gene associations mined from literature

Literature associating CFHR1 and degeneration of macula and posterior pole

CFHR1 [ENSP00000314299]

Complement factor H-related protein 1; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.

Synonyms:  CFHR1,  CFHR1p,  hCFHR1,  B1AKG0,  Q03591 ...

Linkouts:  STRING  Pharos  UniProt  OMIM