Summary:
Recombinant human MCFD2 protein
Cat：P02967
| 【Derived From】： E.coli |
| 【Endotoxin】： Not measured |
| 【Amino Acid】： 1-146aa |
| 【Purity】： ≥85% by SDS-PAGE. |
| 【Name】： MCFD2 |
| 【Full Name】： multiple coagulation factor deficiency 2 |
| 【Uniprot】： Q8NI22 |
| 【Gene ID】： 90411 |
| 【Species Reactivity】： Human Mouse Rat (Gorilla) |
| 【Mol Mass】： 16kDa |
| 【Application】： Immunology research |
| 【Purification】： NI-NTA affinity purification |
| 【Bioactive】： No activity experimental data, to be verified. |
| 【Tag】： With a 6×His tag at the N/C-terminus. |
| 【Concentration】： 1mg/ml by SDS-PAGE. |
Store:
| 【Reconstitution】： Reconstituted protein solution can be diluted with distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. (It is not recommended to reconstitute to a concentration less than 10μg/ml. Dissolve the lyophilized protein in distilled water.) |
| 【Storage】： Reconstituted protein solution can be stored at 4-7℃ for 2-7 days， stored at < -20℃ for 1 year. |
| 【Formulation】： Powder: Lyophilized from a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, 1mM DTT, PH7.2-8.0. |
Background:
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus.This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC).Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels.This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors.The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'.A processed RNA pseudogene of this gene is on chromosome 6p22.1.Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Verified picture
