GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: C8B

id732
symbolC8B
organismHomo sapiens
full namecomplement C8 beta chain
summaryThis 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. [provided by RefSeq, Jun 2013]
variant-disease

NM_000066.4(C8B):c.271C>T (p.Gln91Ter) AND Complement component 8 deficiency type 2

NM_000066.4(C8B):c.1653G>A (p.Trp551Ter) AND Complement component 8 deficiency type 2

NM_000066.4(C8B):c.820C>T (p.Arg274Ter) AND Complement component 8 deficiency type 2

NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs) AND Complement component 8 deficiency type 2

NM_000066.4(C8B):c.271C>T (p.Gln91Ter) AND Complement component 6 deficiency

... 20 more


Partner site how to take full screenshot on site-shot.com.