MCFD2 Produits
(Multiple Coagulation Factor Deficiency 2 (MCFD2))
Catégories
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].
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Catégories MCFD2 en vedette
MCFD2 Anticorps
High quality antibodies with extensive validation data.
MCFD2 Kits ELISA
Reliable ELISA kits for a wide range of species.
MCFD2 Protéines
Proteins for various applications incl. WB, ELISA, IF etc.
MCFD2 recommandé Anticorps
Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Application
WB, ELISA, IHC (p), RNAi
Validations
- (6)
N° du produit
ABIN566639
Quantité
100 μg
Fiche technique
Fiche technique
Reactivity
Human
Application
WB
Validations
- (3)
N° du produit
ABIN4911821
Quantité
100 μL
Fiche technique
Fiche technique
Reactivity
Human
Application
WB, ELISA, IF
Validations
- (2)
N° du produit
ABIN1327026
Quantité
100 μg
Fiche technique
Fiche technique
MCFD2 recommandé Kits ELISA
Produit
Reactivity
Analytical Method
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Analytical Method
Quantitative Sandwich ELISA
Validations
- (1)
N° du produit
ABIN6968701
Quantité
96 tests
Fiche technique
Fiche technique
Reactivity
Mouse
Analytical Method
Quantitative Sandwich ELISA
Validations
- (1)
N° du produit
ABIN6968702
Quantité
96 tests
Fiche technique
Fiche technique
Reactivity
Rat
Analytical Method
Validations
N° du produit
ABIN1143338
Quantité
96 tests
Fiche technique
Fiche technique
MCFD2 recommandé Protéines
Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Source
Escherichia coli (E. coli)
Validations
- (1)
N° du produit
ABIN666930
Quantité
100 μg
Fiche technique
Fiche technique
Reactivity
Human
Source
Wheat germ
Validations
- (1)
N° du produit
ABIN1310538
Quantité
10 μg
Fiche technique
Fiche technique
Reactivity
Human
Source
Escherichia coli (E. coli)
Validations
N° du produit
ABIN2130495
Quantité
100 μg
Fiche technique
Fiche technique
Dernières publications sur nos produits MCFD2
: "Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex." dans: Traffic (Copenhagen, Denmark), Vol. 7, Issue 11, pp. 1473-81, (2006) (PubMed).: "Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII." dans: American journal of hematology, Vol. 79, Issue 4, pp. 262-6, (2005) (PubMed).
: "LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway." dans: The Journal of biological chemistry, Vol. 280, Issue 27, pp. 25881-6, (2005) (PubMed).
Synonymes et noms alternatifs relatifs à MCFD2
multiple coagulation factor deficiency 2 (MCFD2), multiple coagulation factor deficiency 2 (mcfd2), multiple coagulation factor deficiency 2 L homeolog (mcfd2.L), multiple coagulation factor deficiency 2 (Mcfd2), 1810021C21Rik, DKFZp469B098, F5F8D, F5f8d, F5F8D2, hm:zeh1186, LMAN1IP, Lman1ip, MCFD2, SDNSF, Sdnsf, wu:fc23b10, wu:fd50d08, zgc:103713, zgc:109915Protein level used designations for MCFD2
- multiple coagulation factor deficiency 2
- multiple coagulation factor deficiency protein 2
- Multiple coagulation factor deficiency protein 2 homolog
- neural stem cell derived neuronal survival protein
- neural stem cell-derived neuronal survival protein
- multiple coagulation factor deficiency protein 2 homolog
- stem cell derived neuronal survival protein
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