Complement factor D (adipsin)
The protein encoded by the complement factor D gene (CFD) is a protease that activates the alternative complement pathway. Mutations cause the autosomal recessive complement factor D deficiency which is clinically characterized by hight susceptibility to neisseria and meningococcal infections.
Genetests:
Related Diseases:
References:
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None (2001) Complement. First of two parts.
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Weiss SJ et al. (1998) Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis.
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Mathieson PW et al. (1997) Lipodystrophy in MCGN type II: the clue to links between the adipocyte and the complement system.
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Volanakis JE et al. (1977) Human factor D of the alternative complement pathway: purification and characterization.
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Martin A et al. (1976) Haemolytic diffusion plate assays for factors B and D of the alternative pathway of complement activation.
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Rosen BS et al. (1989) Adipsin and complement factor D activity: an immune-related defect in obesity.
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Stanton CM et al. (2011) Complement factor D in age-related macular degeneration.
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Forneris F et al. (2010) Structures of C3b in complex with factors B and D give insight into complement convertase formation.
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Abrera-Abeleda MA et al. (2007) Mesangial immune complex glomerulonephritis due to complement factor D deficiency.
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Sprong T et al. (2006) Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
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White RT et al. (1992) Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue.
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Xu Y et al. (2001) Complement activation in factor D-deficient mice.
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Biesma DH et al. (2001) A family with complement factor D deficiency.
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Hobart MJ et al. (1976) Allotypes of complement components in man.
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15. |
OMIM.ORG article
Omim 134350
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Orphanet article
Orphanet ID 221187
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NCBI article
NCBI 1675
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Update: Aug. 14, 2020