protein

Factor H

MBS537165

0.25 mg

430 USD

Native Protein

Factor H

Factor H

Complement Factor H

factor H; Complement factor H; complement factor H; complement factor H; H factor 1

CFH; CFH; FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; HF; HF1; HF2

CFAH_HUMAN

Human

1231

Frozen liquid in 10mM sodium phosphate, 145mM NaCl, pH 7.3.

1.05 mg/ml

Aliquot and store at -70 degree C or lower. Avoid repeated freeze/thaw cycles.

User optimized

Source Note: Human serum/plasma. Protein Type: Native. Biological Significance: Complement factor H (fH) is an essential regulatory component of the alternative pathway of complement. It is critical for prevention of complement activation on host cells and tissues, especially the kidney. It has two functional activities: 1) it controls the formation and decay of the alternative pathway C3/C5 convertase (decay accelerating activity) and 2) it acts as a cofactor for factor I which proteolytically inactivates C3b when C3b is bound to factor H (cofactor activity).

Biohazard Information: Donor samples were tested and found to be negative for HBsAg, HTLV-I/II, STS, and for antibodies to HCV, HIV-1 and HIV-II. Nonetheless caution should be used when handling this material as there is a margin of error in all tests. Dry Ice Shipment: Extra charge fee may add to your shipping cost as dry ice is required to ship this product.

Immunology; Native Protein

Purified native Human Factor H

31965

CAA68704.1

P08603

155 kDa

Complement And Coagulation Cascades Pathway (83073); Complement And Coagulation Cascades Pathway (484); Complement Cascade Pathway (106405); Immune System Pathway (106386); Innate Immune System Pathway (106387); Regulation Of Complement Cascade Pathway (576254); Staphylococcus Aureus Infection Pathway (172846); Staphylococcus Aureus Infection Pathway (171867)

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

CFH: Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway. Genetic variations in CFH are associated with basal laminar drusen (BLD); also known as drusen of Bruch membrane or cuticular drusen or grouped early adult-onset drusen. Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. Defects in CFH are the cause of complement factor H deficiency (CFHD). A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. Defects in CFH are a cause of susceptibility to hemolytic uremic syndrome atypical type 1 (AHUS1). 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. 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. Genetic variation in CFH is associated with age-related macular degeneration type 4 (ARMD4). ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin- containing structure known as Bruch membrane. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Secreted, signal peptide; Secreted. Chromosomal Location of Human Ortholog: 1q32. Cellular Component: extracellular space; extracellular region. Molecular Function: heparin binding; heparan sulfate proteoglycan binding; protein binding. Biological Process: complement activation, alternative pathway; regulation of complement activation; innate immune response; complement activation. Disease: Complement Factor H Deficiency; Basal Laminar Drusen; Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1; Macular Degeneration, Age-related, 4

0.25 mg

430 USD