| Predicate | Object |
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Complement factor B
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| http://www.biopax.org/relea... |
CFAB_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
3.4.21.47,
C3/C5 convertase,
Complement factor B Ba fragment,
Complement factor B Bb fragment,
GBG,
Glycine-rich beta glycoprotein,
PBF2,
Properdin factor B
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| http://www.biopax.org/relea... |
FUNCTION: Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B- lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes. CATALYTIC ACTIVITY: Cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to yield C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to yield C5a and C5b. SUBUNIT: Monomer. SUBCELLULAR LOCATION: Secreted. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P00751-1; Sequence=Displayed; Name=2; IsoId=P00751-2; Sequence=VSP_005380, VSP_005381; POLYMORPHISM: Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have been identified. The variants His-9 and Gln-32 are associated with a reduced risk of age-related macular degeneration (ARMD) [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. DISEASE: Defects in CFB are a cause of susceptibility to hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. SIMILARITY: Belongs to the peptidase S1 family. SIMILARITY: Contains 1 peptidase S1 domain. SIMILARITY: Contains 3 Sushi (CCP/SCR) domains. SIMILARITY: Contains 1 VWFA domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFB"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/bf/"; GENE SYNONYMS: BF BFD. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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