C7 gene

complement C7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Nov 2016]

From UniProt:

Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor.

From NCBI Gene:

  • Complement component 7 deficiency

From UniProt:

Complement component 7 deficiency (C7D): A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. [MIM:610102]

Cytogenetic Location: 5p13.1, which is the short (p) arm of chromosome 5 at position 13.1

Molecular Location: base pairs 40,909,497 to 40,982,939 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p13.1, which is the short (p) arm of chromosome 5 at position 13.1