FUNCTION: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.
DISEASE: Defects in LMAN1 are a cause of factor V and factor VIII combined deficiency (F5F8D) [MIM:227300], also known as multiple coagulation factor deficiency I (MCFD1). F5F8D is an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. Affected patients present with a moderate bleeding tendency and have factor V and factor VIII levels in the range of 5-30 % of normal.