C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 (CPAMD8)

C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 (CPAMD8) is a large, membrane-associated protease inhibitor and a member of the alpha-2-macroglobulin/complement 3 protein family[1][3]. The protein contains a signal sequence, thioester motif, RXXR processing site, and a C-terminal Kazal-type serine protease inhibitor domain[1]. CPAMD8 is expressed in various human tissues, especially the kidney, brain, and testis, and at lower levels in the heart, liver, and intestine[1]. It is processed to two polypeptide chains, is membrane-associated via ionic interactions, and is frequently upregulated in response to immune stimuli, indicating a functional role in local innate immune defense[1][2][3]. Pathogenic CPAMD8 variants are associated with recessive ocular developmental disorders including anterior segment dysgenesis, pigmentary glaucoma, and congenital glaucoma, as well as morgagnian cataract[2][3]. No current drugs are known to target CPAMD8, and its direct value as a therapeutic target remains unclear[2][3].

Other names

CPAMD8KIAA1283VIPK-CAPASGD8alpha-2-macroglobulin family protein VIPcomplement 3 and pregnancy zone protein-like alpha-2-macroglobulin domain-containing 8C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8