Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Complement factor properdin

This gene encodes a plasma glycoprotein that activates the alternative complement pathway. This protein binds to foreign cells and stabilizes the C3- and C5-convertase there. This boosts the activation of other complement factors and finally results in the membrane attack complex and lysis of the target cell. Mutations in this cause properdin deficiency, which is characterized by fulminant meningococcal infections. Also mutations seem to play a role in the pathogenesis of C3 glomerulonephritis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Properdin deficiency, X-linked
CFP
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

Nolan KF et al. (1992) Characterization of the human properdin gene.

external link
2.

Fearon DT et al. (1980) Current concepts in immunology: the alternative pathway of complement--a system for host resistance to microbial infection.

external link
3.

Goundis D et al. (1989) Localization of the properdin structural locus to Xp11.23-Xp21.1.

external link
4.

Laval SH et al. (1991) The properdin structural locus (Pfc) lies close to the locus for tissue inhibitor of metallothionine proteases (Timp) on the mouse X chromosome.

external link
5.

None (2013) Unexpected role for properdin in complement C3 glomerulopathies.

external link
6.

Lesher AM et al. (2013) Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis.

external link
7.

Gulati S et al. (2012) Properdin is critical for antibody-dependent bactericidal activity against Neisseria gonorrhoeae that recruit C4b-binding protein.

external link
8.

Helminen M et al. (2012) A novel mutation W388X underlying properdin deficiency in a Finnish family.

external link
9.

Schejbel L et al. (2009) Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.

external link
10.

Gaarkeuken H et al. (2008) Complement activation by tubular cells is mediated by properdin binding.

external link
11.

Stover CM et al. (2008) Properdin plays a protective role in polymicrobial septic peritonitis.

external link
12.

Genel F et al. (2006) Properdin deficiency in a boy with fulminant meningococcal septic shock.

external link
13.

Mathew S et al. (2006) Complement and properidin deficiencies in meningococcal disease.

external link
14.

van den Bogaard R et al. (2000) Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

external link
15.

Fredrikson GN et al. (1996) Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

external link
16.

Westberg J et al. (1995) Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

external link
17.

Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews.

external link
18.

Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity.

external link
19.

Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections.

external link
20.

Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections].

external link
21.

Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease.

external link
22.

Sjöholm AG et al. (1988) A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males.

external link
23.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

external link
24.

Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene.

external link
25.

Derry JM et al. (1992) Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes.

external link
26.

Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp.

external link
27.

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

external link
28.

NCBI article

NCBI 5199 external link
29.

OMIM.ORG article

Omim 300383 external link
30.

Orphanet article

Orphanet ID 119379 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits