MCFD2 Human
Description
MCFD2 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 136 amino acids (27-146 a.a.) and having a molecular wieght of 15.1kDa. The MCFD2 is is fused to 16 a.a. T7-Tag at N-terminus and purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
MCFD2 is a soluble luminal protein characterized by two calmodulin-like EF-hand motifs at its C-terminus. It forms a complex with lectin mannose binding protein 1 (LMAN1), also known as ERGIC-53. This complex acts as a cargo receptor, facilitating the transport of FV and FVIII, which are essential for the blood coagulation process .
Mutations in the MCFD2 gene cause a rare autosomal recessive bleeding disorder known as combined deficiency of FV and FVIII (F5F8D). This disorder is characterized by mild to moderate bleeding and a coordinated reduction in plasma levels of FV and FVIII .
The combined deficiency of FV and FVIII (F5F8D) is a significant clinical condition due to its impact on the blood coagulation process. Patients with this deficiency may experience symptoms such as easy bruising, nosebleeds, and prolonged bleeding after injuries or surgeries. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected .
Research into MCFD2 and its role in coagulation has significant therapeutic implications. Understanding the molecular mechanisms underlying the transport of FV and FVIII can lead to the development of targeted therapies for bleeding disorders. Additionally, recombinant forms of MCFD2 can be used in research and potentially in therapeutic applications to correct the deficiencies in FV and FVIII transport .
