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Protein Page:
CFHR5 (human)

Overview
CFHR5 Involved in complement regulation. Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome 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. 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. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1q31.3
Disease: Cfhr5 Deficiency
Reference #:  Q9BXR6 (UniProtKB)
Alt. Names/Synonyms: CFHL5; CFHR5; complement factor H-related 5; Complement factor H-related protein 5; factor H-related protein 5; FHR-5; FHR5; FLJ10549; MGC133240
Gene Symbols: CFHR5
Molecular weight: 64,419 Da
Basal Isoelectric point: 6.81  Predict pI for various phosphorylation states
Select Structure to View Below

CFHR5

Protein Structure Not Found.


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