Gene: C6
Alternate names for this Gene: -
Gene Summary: 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.
Gene is located in Chromosome: 5
Location in Chromosome : 5p13.1
Description of this Gene: complement C6
Type of Gene: protein-coding
Gene: LOC105374739
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs61469168 in
C6;LOC105374739 gene and
Complement Component 6 Deficiency
PMID 9856498 1998 The molecular basis of C6 deficiency in the western Cape, South Africa.
PMID 8690922 1996 Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
PMID 9472666 1998 Molecular defects leading to human complement component C6 deficiency in an African-American family.
PMID 12653841 2003 Restricted genetic defects underlie human complement C6 deficiency.
PMID 22288589 2012 Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.