MCFD2 (NM_139279) Human Recombinant Protein

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SKU
TP302230L
Recombinant protein of human multiple coagulation factor deficiency 2 (MCFD2), 1 mg
  $7,820.00
6 Weeks*
Bulk/Customize
Specifications
Specifications
Product Data
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence
Protein Sequence
>RC202230 protein sequence
Red=Cloning site Green=Tags(s)

MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQ
ELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAE
FAKSLQ

TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag C-Myc/DDK
Predicted MW 13.5 kDa
Concentration >0.05 µg/µL as determined by microplate BCA method
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3, 10% glycerol
Preparation Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
Note For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process.
Storage Store at -80°C.
Stability Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
Shipping Dry Ice
Reference Data
RefSeq NP_644808
Locus ID 90411
UniProt ID Q8NI22
Cytogenetics 2p21
RefSeq Size 4196
RefSeq ORF 438
Synonyms F5F8D; F5F8D2; LMAN1IP; SDNSF
Summary 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 Categories Cardiovascular diseases, Intracellular Proteins
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*Delivery time may vary from web posted schedule. Occasional delays may occur due to unforeseen complexities in the preparation of your product. International customers may expect an additional 1-2 weeks in shipping.

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