Gene: C8B

Alternate names for this Gene: C82

Gene Summary: This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1p32.2

Description of this Gene: complement C8 beta chain

Type of Gene: protein-coding

rs1013579 in C8B gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs146187042 in C8B gene and Complement Component 6 Deficiency PMID 19434484 2009 A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.

PMID 14767900 2004 [Further study on heterogeneic basis of complement C8 beta deficiency].

PMID 7594510 1995 Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.

PMID 8098723 1993 Genetic basis of human complement C8 beta deficiency.