Entity Details

Primary name C6
Entity type gene
Source Source Link

Details

PrimaryID729
RefseqGeneNG_011582
SymbolC6
Namecomplement C6
Chromosome5
Location5p13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCO6_HUMAN

GO terms

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GOName
GO:0001701 in utero embryonic development
GO:0005576 extracellular region
GO:0005579 membrane attack complex
GO:0006956 complement activation
GO:0006958 complement activation, classical pathway
GO:0019835 cytolysis
GO:0030449 regulation of complement activation
GO:0045087 innate immune response
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
612446 OMIMComplement 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

14 interactions