基因名：
LMAN1
产品别名：
ERGIC-53； ERGIC53； F5F8D； FMFD1； MCFD1； MR60； gp58； LMAN1； lectin, mannose binding 1； lectin, mannose binding 1； protein ERGIC-53； ER-Golgi intermediate compartment 53 kDa protein； endoplasmic reticulum-golgi intermediate compartment protein 53； intracellular mannose-specific lectin MR60； 凝集素甘露糖结合蛋白1； 甘露糖结合凝集素1(LMAN1)；
背景信息：
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. [provided by RefSeq, Jul 2008]
