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Human MCFD2 / Multiple coagulation factor deficiency 2 ELISA Kit

SKU:
HUFI01453
Product Type:
ELISA Kit
Size:
96 Assays
Uniprot:
Q8NI22
Sensitivity:
46.875pg/ml
Range:
78.125-5000pg/ml
ELISA Type:
Sandwich
Synonyms:
MCFD2, Multiple coagulation factor deficiency protein 2, Neural stem cell-derived neuronal survival protein, SDNSF
Reactivity:
Human
Research Area:
Cell Biology
€599
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Description

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Human MCFD2 / Multiple coagulation factor deficiency 2 ELISA

MCFD2 (Multiple Coagulation Factor Deficiency 2, ER Cargo Receptor Complex Subunit) gene is located on chromosome 8p12-p11.1. Mutations in the MCFD2 gene are associated with multiple coagulation factor deficiency 2, a rare autosomal recessive disorder characterized by decreased levels of factors II, V, VII, and X in the blood. MCFD2 is a component of the ER cargo receptor complex which mediates retention of proteins in the ER lumen. Defects in MCFD2 result in loss of proteins from the ER and cause accumulation of misfolded proteins in the cytoplasm which can lead to cell death.