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MCFD2

Anti-MCFD2 Products
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- Species Reactivity: Human
- Application: IHC-P, WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1, κ
- Application: WB
- Anti-MCFD2 Immunohistochemistry Kit (VS-0525-XY4298)
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- Species Reactivity: Human
- Target: MCFD2
- Application: IHC
- Anti-Mouse MCFD2 Immunohistochemistry Kit (VS-0525-XY4299)
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- Species Reactivity: Mouse
- Target: MCFD2
- Application: IHC
- Chicken Anti-MCFD2 Polyclonal IgY (BRD-0352MZ)
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- Species Reactivity: Human
- Type: Chicken antibody
- Application: WB
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For Research Use Only. Not For Clinical Use.
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. [provided by RefSeq, Apr 2016]
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Muller glia cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Interacts in a calcium-dependent manner with LMAN1.
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