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Your search for "mcfd2" returned 38 TaqMan® Gene Expression Assays
multiple coagulation factor deficiency 2
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]
|Protocol||Protocol: TaqMan® Gene Expression Assays||PDF, Unknown KB|
|App Note||Application Note: TaqMan® Gene Expression Assays Endogenous Controls||PDF, Unknown KB|
|QRC||QRC: TaqMan® Gene Expression Assays||PDF, Unknown KB|
|White Paper||Design Process for Gene Expression Assays||PDF, Unknown KB|
|White Paper||Gene Expression Assay Performance Guarantee||PDF, Unknown KB|
|White Paper||TaqMan® Assays shipped at ambient temperature retain their quality and stability||PDF, Unknown KB|
|Brochure||Understanding Your Shipment||PDF, Unknown KB|
|White Paper||Product Stability Study||PDF, Unknown KB|
|Spreadsheet||Pathogen Assay Information||XLSX, Unknown KB|
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