RBCC Red Blood Cell Collection

CO8B_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: C8B
Protein names and data: CO8B_HUMAN , Complement component C8 beta chain , Complement component 8 subunit beta; Flags: Precursor Lenght: 591 a.a.
Mass: 67047 Da
fasta formatted sequence
Function: 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.
Disease: ( OMIM: 120960 613789 ) Complement component 8 deficiency, 2 (C8D2) [MIM:613789]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location: Secreted.

Genetic variants

The sequence shown is that of allotype C8B B.

108 - 108 E -> K (in dbSNP:rs12067507). VAR_027649 12067507
117 - 117 R -> G (in allotype C8B A; dbSNP:rs1013579). VAR_012642 1013579
261 - 261 P -> L (in dbSNP:rs12085435). VAR_027650 12085435

Database cross-references

UniProt: P07358
Ensembl: ENST00000371237
MIM: 120960
MIM: 613789
neXtProt: NX_P07358
Antibodypedia: P07358 (may not find the protein thus also not any antibody)
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