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

Complement component C7

The C7 gene encodes a complement component involved in the membrane attack complex. Mutations cause complement C7 deficiency which may result in immunological abnormalities, predisposition to meningococcal infections in aprticular.

Genetests:

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

Related Diseases:

Complement C7 deficiency
C7
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

external link
2.

Barroso S et al. (2006) Molecular defects of the C7 gene in two patients with complement C7 deficiency.

external link
3.

Barroso S et al. (2004) Complement component C7 deficiency in two Spanish families.

external link
4.

Hobart MJ et al. (1995) Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes.

external link
5.

Nakamura S et al. (1984) Genetic polymorphism of the seventh component of complement in a Japanese population.

external link
6.

Nishimukai H et al. (1986) Genetic polymorphism of the seventh component of complement: a new variant.

external link
7.

DiScipio RG et al. (1988) The structure of human complement component C7 and the C5b-7 complex.

external link
8.

Würzner R et al. (1990) C7*9, a new frequent C7 allele detected by an allotype-specific monoclonal antibody.

external link
9.

Würzner R et al. (1992) A novel protein polymorphism of human complement C7 detected by a monoclonal antibody.

external link
10.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

external link
11.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

external link
12.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

external link
13.

Eldridge PR et al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.

external link
14.

None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

external link
15.

Jeremiah SJ et al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.

external link
16.

Hobart MJ et al. (1978) Inherited structural variation and linkage relationships of C7.

external link
17.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

external link
18.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

external link
19.

NCBI article

NCBI 730 external link
20.

OMIM.ORG article

Omim 217070 external link
21.

Orphanet article

Orphanet ID 160112 external link
22.

Wikipedia article

Wikipedia EN (Complement_component_7) 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