ARG70902

Human MCFD2 recombinant protein (His-tagged, C-ter)

Human MCFD2 recombinant protein (His-tagged, C-ter) for SDS-PAGE

Overview

Product Description HEK293 expressed, His-tagged (C-ter) MCFD2 recombinant protein
Tested Application SDS-PAGE
Target Name MCFD2
Species Human
A.A. Sequence Glu27 - Gln146
Expression System HEK293
Alternate Names SDNSF; Multiple coagulation factor deficiency protein 2; Neural stem cell-derived neuronal survival protein

Properties

Form Powder
Buffer PBS
Reconstitution It is recommended to reconstitute the lyophilized protein in sterile water to a concentration approximately 1 mg/mL and incubate the stock solution for at least 20 min at room temperature to make sure the protein is dissolved completely.
Storage Instruction For long term, lyophilized protein should be stored at -20°C or -80°C, protected from light and moisture, for up to 12 months. After reconstitution , aliquot and store at 2 to 8°C for up to 2 days, or at -20°C or -80°C for up to 3 months Storage in frost free freezers is not recommended. Avoid repeated freeze/thaw cycles. Suggest spin the vial prior to opening.

Bioinformation

Gene Symbol MCFD2
Gene Full Name Multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
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. [provided by RefSeq, Apr 2016]
Function The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. [UniProt]
Cellular Localization Golgi apparatus. [UniProt]
PTM Phosphoprotein. [UniProt]