MCFD2 Rabbit Polyclonal Antibody
Specifications
| Product Data | |
| Application | IHC |
|---|---|
| Recommended Dilution | IHC: 20-100 Positive control: Human cervical cancer Predicted cell location: Cytoplasm |
| Reactivity | Human, Mouse, Rat |
| Antibody Host | Rabbit |
| Isotype | IgG |
| Clonality | Polyclonal |
| Immunogen | Fusion protein of human MCFD2 |
| Buffer | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
| Concentration | lot specific |
| Purification | Antigen affinity purification |
| Conjugation | Unconjugated |
| Storage | Store at -20°C. |
| Stability | 1 year |
| Shipping | Blue Ice |
| Gene Name | multiple coagulation factor deficiency 2 |
| Database Link | |
| 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. |
| Synonyms | DKFZp686G21263; F5F8D; LMAN1IP; OTTHUMP00000203115; OTTHUMP00000203117; OTTHUMP00000203118; OTTHUMP00000203119; SDNSF |
| Reference Data | |
| Protein Categories | Cardiovascular diseases, Intracellular Proteins |
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