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.
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Protein Aliases: endoplasmic reticulum-golgi intermediate compartment protein 53; ER-Golgi intermediate compartment 53 kDa protein; Gp58; Intracellular mannose-specific lectin MR60; Lectin mannose-binding 1; lectin, mannose-binding, 1; p58; Protein ERGIC-53
Gene Aliases: 2610020P13Rik; AI326273; AU043785; C730041J05; ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58; LMAN1; MCFD1; MR60; P58
Molecular Function: membrane traffic protein