Anti-MCFD2 Antibody (CAB10376)
- SKU:
- CAB10376
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| Antibody Name: | Anti-MCFD2 Antibody |
| Antibody SKU: | CAB10376 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB IHC |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 27-146 of human MCFD2 (NP_644808.1). |
| Application: | WB IHC |
| Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:100 - 1:200 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | A375, SW480, Mouse liver, Mouse kidney, Rat kidney |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 27-146 of human MCFD2 (NP_644808.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | EEPA ASFS QPGS MGLD KNTV HDQE HIME HLEG VINK PEAE MSPQ ELQL HYFK MHDY DGNN LLDG LELS TAIT HVHK EEGS EQAP LMSE DELI NIID GVLR DDDK NNDG YIDY AEFA KSLQ |
| Gene ID: | 90411 |
| Uniprot: | Q8NI22 |
| Cellular Location: | Endoplasmic reticulum, Endoplasmic reticulum-Golgi intermediate compartment, Golgi apparatus |
| Calculated MW: | 10kDa/14kDa/16kDa |
| Observed MW: | 16kDa |
| Synonyms: | MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF |
| 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. |
| 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 |
 | Western blot analysis of extracts of various cell lines, using MCFD2 antibody (CAB10376) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s. |
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