CD46;MCP;MIC10

Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)

Homo sapiens (Human)

43747

392

Pending Verification

Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)

Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]: 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. {ECO:0000269|PubMed:14566051, ECO:0000269|PubMed:16386793, ECO:0000269|PubMed:16621965, ECO:0000269|PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. Patients with CD46 mutations seem to have an overall better prognosis compared to patients carrying CFH mutations.

MUTAGEN 83 83 N->Q: No effect on cytoprotective function. No effect on Neisseria binding. No effect on Measles virus binding. {ECO:0000269|PubMed:11260136, ECO:0000269|PubMed:8764003, ECO:0000269|PubMed:9759896}.; MUTAGEN 114 114 N->Q: Strongly decreases cytoprotective function. Decreases Neisseria binding. Abolishes Measles virus binding. {ECO:0000269|PubMed:11260136, ECO:0000269|PubMed:8764003, ECO:0000269|PubMed:9759896}.; MUTAGEN 273 273 N->Q: Strongly decreases cytoprotective function. Abolishes Neisseria binding. No effect on Measles virus binding. {ECO:0000269|PubMed:11260136, ECO:0000269|PubMed:8764003, ECO:0000269|PubMed:9759896}.

MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL

Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. {ECO:0000269|PubMed:10843656, ECO:0000269|PubMed:12540904}.; (Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.; (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3. {ECO:0000269|PubMed:12915534, ECO:0000269|PubMed:14566335, ECO:0000269|PubMed:15047806, ECO:0000269|PubMed:15078926, ECO:0000269|PubMed:15919905, ECO:0000269|PubMed:16254377}.; (Microbial infection) Acts as a receptor for cultured Measles virus. {ECO:0000269|PubMed:10972291}.; (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6. {ECO:0000269|PubMed:12663806, ECO:0000269|PubMed:12724329}.; (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

Alternative sequence (11); Beta strand (27); Chain (1); Compositional bias (1); Disulfide bond (8); Domain (4); Glycosylation (21); Helix (2); Modified residue (7); Mutagenesis (3); Natural variant (13); Sequence conflict (4); Signal peptide (1); Topological domain (2); Transmembrane (1); Expressed by all cells except erythrocytes.

Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)

Recombinant

HEK293

Lyophilized

7.4-7.5

Sterile-filtered colorless solution

1mg/ml

Standard

PBS

SDS-PAGE

> 98%

RP-HPLC

-20°C

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.