LMAN1


Description

The LMAN1 (lectin, mannose binding 1) is a protein-coding gene located on chromosome 18.

LMAN1, also known as ERGIC-53, is a protein involved in the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. It is a mannose-specific lectin, and mutations in the gene are associated with a coagulation defect called combined deficiency of factor V-factor VIII. This disorder is caused by the inability to properly transport coagulation factors V and VIII. LMAN1, along with MCFD2, forms a protein complex that acts as a cargo receptor for these factors. The gene's inactivation is also linked to colorectal tumorigenesis.

LMAN1 is a mannose-specific lectin that recognizes sugar residues on glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors. It plays a role in sorting or recycling of proteins and lipids. LMAN1, in complex with MCFD2, serves as a cargo receptor for the transport of selected proteins from the endoplasmic reticulum (ER) to the Golgi apparatus.

LMAN1 is also known as ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58.

Associated Diseases


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