null

Human MCFD2 Recombinant Protein (RPPB3944)

SKU:
RPPB3944
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q8NI22
€309
Frequently bought together:

Description

system_update_altDatasheetsystem_update_altMSDS
Product Name:Human MCFD2 Recombinant Protein
Product Code:RPPB3944
Size:25µg
Species:Human
Target:MCFD2
Synonyms:SDNSF, LMAN1IP, Multiple coagulation factor deficiency protein 2, Neural stem cell-derived neuronal survival protein, MCFD2, F5F8D, DKFZp686G21263.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:The MCFD2 protein solution contains 20mM Tris-HCl, pH-7.5, 100mM NaCl and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90.0% as determined by SDS-PAGE.
Amino Acid Sequence:MASMTGGQQM GRGSHMEEPA ASFSQPGSMG LDKNTVHDQE HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ

The MCFD2-LMAN1 complex forms an explicit cargo receptor for the ER-to-Golgi transport of selected proteins. MCFD2 is involved in the secretion of coagulation factors. MCFD2 is expressed by neural stem/progenitor cells of the hippocampus, and localized to region where neurogenesis persists throughout life. MCFD2 prevents NSC cell death and maintains stem cell characteristics. MCFD2 forms a complex with LAMN1 that facilitates the transport of coagulation factors V and VIII from the endoplasmic reticulum to the Golgi apparatus through an endoplasmic reticulum Golgi intermediate compartment. Mutations in the MCFD2 cause Factor V and Factor VIII combined deficiency.

MCFD2 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 136 amino acids (27-146 a.a.) and having a molecular wieght of 20.9kDa.The MCFD2 is is fused to 16 a.a. T7-Tag at N-terminus and purified by proprietary chromatographic techniques.

UniProt Protein Function: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.
UniProt Protein Details:

Protein type:Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 2p21

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

Biological Process: COPII coating of Golgi vesicle; ER to Golgi vesicle-mediated transport; protein amino acid N-linked glycosylation via asparagine

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

NCBI 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]
UniProt Code:Q8NI22
NCBI GenInfo Identifier:49036425
NCBI Gene ID:90411
NCBI Accession:Q8NI22.1
UniProt Secondary Accession:Q8NI22,Q53SS3, Q68D61, Q8N3M5, A8K7W2, D6W5A9, E9PD95
UniProt Related Accession:Q8NI22
Molecular Weight:16kDa
NCBI Full Name:Multiple coagulation factor deficiency protein 2
NCBI 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
UniProt Protein Name:Multiple coagulation factor deficiency protein 2
UniProt Synonym Protein Names:Neural stem cell-derived neuronal survival protein
Protein Family:Multiple coagulation factor deficiency protein
UniProt Gene Name:MCFD2��

Related Products