CFB

This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]

Description

Complement factor B

Tissue specificity

Tissue enriched (liver)

Subcell location

Endoplasmic reticulum, Vesicles, Cell Junctions

Predicted location

Intracellular, Secreted to blood

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

6 (31945650 - 31952084)

Ensembl ID

ENSG00000243649  (ver. 103.38)

Orthologs

-

UniProt

P00751

neXtProt

NX_P00751

Human splice variants

Protein structure