LMAN1

Protein ERGIC-53 also known as ER-Golgi intermediate compartment 53 kDa protein or lectin mannose-binding 1 is a is_associated_with::protein that in humans is encoded by the LMAN1 is_associated_with::gene.

Function
ERGIC-53 is a type I integral is_associated_with::membrane protein localized in the intermediate region between the is_associated_with::endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. Also named LMAN1, the protein is a is_associated_with::mannose-specific is_associated_with::lectin and is a member of a novel family of plant lectin homologs in the is_associated_with::secretory pathway of animal cells. Mutations in the gene are associated with a is_associated_with::coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. is_associated_with::MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII. ERGIC-53 and MCFD2 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body.

Clinical significance
LMAN1 is_associated_with::mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.