Gene: C7

Alternate names for this Gene: -

Gene Summary: This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.1

Description of this Gene: complement C7

Type of Gene: protein-coding

rs74480769 in C7 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs121964920 in C7 gene and Complement Component 7 Deficiency PMID 9856499 1998 Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

PMID 8871666 1996 Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

PMID 9218625 1997 Molecular bases of C7 deficiency: three different defects.

PMID 15831990 2005 Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.