C6 gene

complement C6

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

From NCBI Gene:

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

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.

From NCBI Gene:

  • Complement component 6 deficiency

From UniProt:

Complement component 6 deficiency (C6D): A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. [MIM:612446]

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

Molecular Location: base pairs 41,142,116 to 41,261,486 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