Recombinant Human MCFD2 protein

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

MCFD2 also known as Multiple Coagulation Factor Deficiency 2 operates as an important protein involved in transport processes within cells. This protein has an approximate mass of 16 kDa and is primarily expressed in the endoplasmic reticulum. MCFD2 partners with LMAN1 (lectin mannose-binding 1) to form a calcium-dependent complex that is essential for certain protein trafficking functions.

Biological function summary

Within cellular systems MCFD2 plays a significant role in the transportation of specific coagulation factors. By forming a complex with LMAN1 MCFD2 assists in packaging cargo proteins like Factor V and Factor VIII ensuring their proper movement from the endoplasmic reticulum to the Golgi apparatus. This function highlights its involvement in maintaining hemostatic balance.

Pathways

Protein trafficking and coagulation processes prominently feature MCFD2's activity. MCFD2 is actively involved in the secretory pathway which includes key proteins such as Factor V and Factor VIII. Its function within these pathways underlines the protein's importance in normal clotting mechanisms supporting overall circulatory health.

Malfunction or deficiency in MCFD2 directly links to Combined Factor V and Factor VIII deficiency (F5F8D). This rare bleeding disorder exemplifies an association where MCFD2's disruption affects coagulation factor transport leading to improper clot formation. The interplay with LMAN1 is also important as mutations in either component can result in similar coagulation defects highlighting a direct impact on blood clotting-related diseases.