MCFD2 (NM_139279) Human Recombinant Protein

• 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]

• Synonyms:

  F5F8D; F5F8D2; LMAN1IP; SDNSF

• Gene ID:

  90411

• UniProt:

  Q8NI22

• Accession Number mRNA:

  NM_139279

• Chromosomal Location:

  2p21

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Molecular Weight:

  13.5 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  MCFD2

• Species:

  Human

• Protein ID:

  NP_644808

• Overview:

  Recombinant protein of human multiple coagulation factor deficiency 2 (MCFD2)

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/90411

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q8NI22

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_139279

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_644808