Rabbit anti-Human MCFD2 Polyclonal Antibody | anti-MCFD2 antibody

MCFD2, NT (Neural Stem Cell-derived Neuronal Survival Protein, Multiple Coagulation Factor Deficiency Protein 2, SDNSF)

Cat. Num. AAA627886

• Gene Names: MCFD2; F5F8D; SDNSF; F5F8D2; LMAN1IP; DKFZp686G21263
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: MCFD2; Polyclonal Antibody; NT (Neural Stem Cell-derived Neuronal Survival Protein; Multiple Coagulation Factor Deficiency Protein 2; SDNSF); Anti -MCFD2; anti-MCFD2 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human MCFD2.
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, 0.09% sodium azide.

• Applicable Applications for anti-MCFD2 antibody: ELISA (EL/EIA), Immunohistochemistry (IHC)
• Application Notes: Suitable for use in ELISA and Immunohistochemistry.; Dilution: ELISA: 1:1,000; Immunohistochemistry: 1:10-1:50
• Immunogen: Synthetic peptide selected from the N-terminal region of human MCFD2 (KLH).
• 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 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Related Product Information for anti-MCFD2 antibody

The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. MCFD2 interacts in a calcium-dependent mannder with LMAN1. Defects in MCFD2 are a cause of factor V and factor VIII combined deficiency (F5F8D); also known as multiple coagulation factor deficiency 2 (MCFD2). F5F8D is an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins.

Product Categories/Family for anti-MCFD2 antibody

Antibodies; Abs to Coagulation Factors

NCBI and Uniprot Product Information

• NCBI GI #: 284005467
• NCBI GeneID: 90411
• NCBI Accession #: NP_001164982.1
• NCBI GenBank Nucleotide #: NM_001171511.2
• UniProt Accession #: Q68D61; Q8NI22
• Molecular Weight: 10,718 Da
• NCBI Official Full Name: multiple coagulation factor deficiency protein 2 isoform C
• NCBI Official Synonym Full Names: multiple coagulation factor deficiency 2
• NCBI Official Symbol: MCFD2
• NCBI Official Synonym Symbols: F5F8D; SDNSF; F5F8D2; LMAN1IP; DKFZp686G21263
• NCBI Protein Information: multiple coagulation factor deficiency protein 2; OTTHUMP00000203114; OTTHUMP00000203115; OTTHUMP00000203116; OTTHUMP00000203117; OTTHUMP00000203118; OTTHUMP00000203119; OTTHUMP00000203120; OTTHUMP00000203121; neural stem cell derived neuronal survival protein; neural stem cell-derived neuronal survival protein
• UniProt Protein Name: MCFD2 protein
• Protein Family: Multiple coagulation factor deficiency protein
• UniProt Gene Name: DKFZp686G21263
• UniProt Synonym Gene Names: MCFD2
• UniProt Entry Name: Q68D61_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]

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