Literature associating FHR2 and primary autosomal recessive microcephaly 2 with or without cortical malformations
Complement factor H-related 2; 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: CFHR2, CFHR2p, hCFHR2, CFHR2-001, CFHR2-002 ...