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lman1

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Official Full Name
lectin, mannose-binding, 1
Background
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.
Synonyms
LMAN1; lectin, mannose-binding, 1; coagulation factor V factor VIII combined deficiency , F5F8D; protein ERGIC-53; endoplasmic reticulum golgi intermediate compartment protein 53; ERGIC 53; ERGIC53; FMFD1; gp58; MCFD1; MR60; intracellular mannose specific

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