C9 gene

complement C9

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

From NCBI Gene:

This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

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. C9 is the pore-forming subunit of the MAC.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Macular degeneration, age-related, 15
  • Complement component 9 deficiency

From UniProt:

Complement component 9 deficiency (C9D): A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. [MIM:613825]

Macular degeneration, age-related, 15 (ARMD15): A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. [MIM:615591]

Cytogenetic Location: 5p14-p12, which is the short (p) arm of chromosome 5 between positions 14 and 12

Molecular Location: base pairs 39,284,275 to 39,364,553 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p14-p12, which is the short (p) arm of chromosome 5 between positions 14 and 12
  • ARMD15
  • C9D