Multiple Coagulation Factor Deficiency 2 Recombinant Protein | MCFD2 recombinant protein

Multiple Coagulation Factor Deficiency 2, Recombinant, Human (MCFD2, T7-tagged, SDNSF, LMAN1IP)

Cat. Num. AAA638252

• Gene Names: MCFD2; F5F8D; SDNSF; F5F8D2; LMAN1IP
• Applications: Western Blot
• Purity: Affinity Purified; ~90% by SDS-PAGE.
• Synonyms: Multiple Coagulation Factor Deficiency 2; Recombinant; Human (MCFD2; T7-tagged; SDNSF; LMAN1IP); MCFD2 recombinant protein

• Host: E Coli
• Purity/Purification: Affinity Purified; ~90% by SDS-PAGE.
• Form/Format: Supplied as a liquid in 20mM Tris-HCl buffer, pH7.5,100mM NaCl,10% glycerol.
• Sequence: MASMTGGQQM GRGSHMEEPA ASFSQPGSMG LDKNTVHDQE HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ

• Applicable Applications for MCFD2 recombinant protein: Western Blot (WB)
• Application Notes: Suitable for use in Western Blot.
• Endotoxin Level: 1EU/1ug (LAL).
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 6 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

SDS-Page

(15% SDS-PAGE (3ug).)

Related Product Information for MCFD2 recombinant protein

Multiple coagulation factor deficiency 2 (MCFD2), also known as SDNSF. This is expressed by neural stem/progenitor cells of the hippocampus, and localized to region where neurogenesis persists throughout life. It has been found to prevent NSC cell death and to maintain stem cell characteristics. This protein forms a complex with LAMN1 that facilitates the transport of coagulation factors V and VIII from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment. Mutations in the MCFD2 gene may cause Factor V and Factor VIII combined deficiency.

Recombinant human MCFD2, fused to T7-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.

Product Categories/Family for MCFD2 recombinant protein

Molecular Biology; MB-Coagulation Factors

NCBI and Uniprot Product Information

• NCBI GI #: 284005451
• NCBI GeneID: 90411
• NCBI Accession #: NP_001164977.1
• NCBI GenBank Nucleotide #: NM_001171506.2
• UniProt Accession #: Q8NI22; Q53SS3; Q68D61; Q8N3M5; A8K7W2; D6W5A9; E9PD95
• Molecular Weight: 15.1kD
• NCBI Official Full Name: multiple coagulation factor deficiency protein 2 isoform A
• NCBI Official Synonym Full Names: multiple coagulation factor deficiency 2
• NCBI Official Symbol: MCFD2
• NCBI Official Synonym Symbols: F5F8D; SDNSF; F5F8D2; LMAN1IP
• NCBI Protein Information: multiple coagulation factor deficiency protein 2; neural stem cell derived neuronal survival protein; neural stem cell-derived neuronal survival protein
• UniProt Protein Name: Multiple coagulation factor deficiency protein 2
• Protein Family: Multiple coagulation factor deficiency protein
• UniProt Gene Name: MCFD2
• UniProt Synonym Gene Names: SDNSF
• UniProt Entry Name: MCFD2_HUMAN

NCBI Description

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (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, Jun 2010]

Uniprot Description

MCFD2: 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. Defects in MCFD2 are a cause of factor V and factor VIII combined deficiency type 2 (F5F8D2); also known as multiple coagulation factor deficiency 2 (MCFD2). F5F8D2 is a blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 2p21

Cellular Component: Golgi apparatus; endoplasmic reticulum; ER-Golgi intermediate compartment

Molecular Function: calcium ion binding

Biological Process: vesicle-mediated transport; protein transport; cellular protein metabolic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification

Disease: Factor V And Factor Viii, Combined Deficiency Of, 2