Human Multiple coagulation factor deficiency protein 2 ELISA Kit | MCFD2 elisa kit

Human Multiple coagulation factor deficiency protein 2 ELISA Kit

Cat. Num. AAA2882869

• Gene Names: MCFD2; F5F8D; SDNSF; F5F8D2; LMAN1IP
• Reactivity: Human
• Synonyms: Multiple coagulation factor deficiency protein 2; Human Multiple coagulation factor deficiency protein 2 ELISA Kit; Neural stem cell-derived neuronal survival protein; MCFD2; SDNSF; MCFD2 elisa kit

• Reactivity: Human
• Sequence Length: 146

• Assay Type: Sandwich
• Detection Range: 78-5000 pg/mL
• Sensitivity: 13pg/ml
• Intra-Assay CV: <=4.3%
• Inter-Assay CV: <=7.5%
• Recovery: 97%
• Preparation and Storage: For long term storage, please store the entire kit at -20 degree C.

Typical Testing Data/Standard Curve (for reference only)

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: 14,431 Da
• 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
• 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: endoplasmic reticulum membrane; ER-Golgi intermediate compartment membrane; Golgi membrane

Molecular Function: calcium ion binding

Biological Process: cellular protein metabolic process; COPII coating of Golgi vesicle; ER to Golgi vesicle-mediated transport; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; protein transport

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