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Products LMAN1 (lectin, mannose-binding, 1) Blocking Peptide (100ug)
| Presku: | AAP46614 |
| Size: | 100 ug |
| Weight: | 54kDa |
| Gene: | 3998 |
| Format: | Lyophilized powder |
| Target: | LMAN1 is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in its gene are associated with a coagulation defect. Using positional cloning, its gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. |
| Alternative names: | ERGIC-53; ERGIC53; F5F8D; FMFD1; MCFD1; MR60; gp58 |
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