| 纯度 | >85%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MCFD2 |
| Uniprot No | Q8NI22 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 27-146aa |
| 氨基酸序列 | EEPA ASFSQPGSMG LDKNTVHDQE HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ |
| 预测分子量 | kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
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**Background of MCFD2 Recombinant Protein**
MCFD2 (Multiple Coagulation Factor Deficiency 2) is a 16 kDa soluble protein encoded by the *MCFD2* gene, located on chromosome 2p21. It plays a critical role in the intracellular transport of coagulation factors V (FV) and VIII (FVIII). MCFD2 functions as a calcium-dependent cargo receptor by forming a complex with LMAN1 (ERGIC-53), a lectin-type transmembrane protein. Together, they facilitate the efficient secretion of FV and FVIII from the endoplasmic reticulum (ER) to the Golgi apparatus, a process essential for maintaining normal plasma levels of these clotting factors.
Mutations in *MCFD2* or *LMAN1* are linked to combined deficiency of FV and FVIII (F5F8D), an autosomal recessive bleeding disorder. This highlights MCFD2’s non-redundant role in coagulation factor trafficking. Structurally, MCFD2 contains two calcium-binding EF-hand motifs, which mediate its interaction with LMAN1 and calcium-dependent conformational changes critical for cargo binding.
Recombinant MCFD2 protein is produced using expression systems such as *E. coli* or mammalian cells, enabling studies on its molecular interactions, structural dynamics, and pathological mechanisms. Purified recombinant MCFD2 is utilized to investigate binding kinetics with LMAN1. calcium dependency, and its role in FV/FVIII biogenesis. Additionally, it serves as a tool for developing therapeutic strategies, including gene therapy or protein replacement for F5F8D. Research on MCFD2 also contributes to understanding broader ER-Golgi trafficking pathways and their implications in other protein secretion disorders.
Overall, MCFD2 recombinant protein is pivotal for dissecting the molecular basis of coagulation factor deficiencies and advancing targeted therapies for related bleeding disorders.
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