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ERGIC-53 / LMAN1
lectin, mannose-binding, 1
ERGIC-53 / 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 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.
| Gene Name: | lectin, mannose-binding, 1 |
| Synonyms: | LMAN1, ERGIC53, F5F8D, gp58, ERGIC-53, FMFD1, Lectin mannose-binding 1, MCFD1, MR60, Protein ERGIC-53, Lectin, mannose-binding, 1 |
| Target Sequences: | NM_005570 NP_005561.1 P49257 |
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