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MCFD2 encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. Zusätzlich bieten wir Ihnen Multiple Coagulation Factor Deficiency 2 Kits (11) und Multiple Coagulation Factor Deficiency 2 Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.
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Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates.
A novel missense mutation, namely Asp81Ala in exon 3 of MCFD2 gene, is firstly reported and described as a cause of combined FV and FVIII (zeige F8 Antikörper) deficiency in a Chinese family.
Studies indicate that the LMAN1 (zeige LMAN1 Antikörper)-CRD (zeige CRX Antikörper) contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII (zeige F8 Antikörper).
Data indicate that together with its soluble coreceptor MCFD2, LMAN1 (zeige LMAN1 Antikörper) transports coagulation factors V (FV) and VIII (zeige COX8A Antikörper) (FVIII (zeige F8 Antikörper)).
Mutations in MCFD2 lead to F5F8D (zeige LMAN1 Antikörper) (combined deficiency of factor V And factor VIII) due to alterations in MCFD2-LMAN1 (zeige LMAN1 Antikörper) complex of coat protein (zeige GOLPH3 Antikörper) (COP (zeige CARD16 Antikörper))II complex trafficking machinery; 30% of F5F8D (zeige LMAN1 Antikörper) patients have mutations in MCFD2. [REVIEW]
We present the identification of a novel MCFD2 gene missense mutation by direct sequencing.
The study reports for the first time a case of Combined factor V and factor VIII deficiency disorder in a Tunisian family, resulting from two novel mutations in exon 3 of the MCFD2 gene.
Data present the crystal structure of the LMAN1 (zeige LMAN1 Antikörper)/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein.
Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 (zeige LMAN1 Antikörper) binding still retain the FV/FVIII (zeige F8 Antikörper) binding activities, suggesting that this interaction is independent of Ca(2 (zeige CA2 Antikörper)+)-induced folding of the protein.
inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1 (zeige LMAN1 Antikörper)
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.
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