MCFD2 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 20-100 Positive control: Human cervical cancer Predicted cell location: Cytoplasm
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Immunogen	Fusion protein of human MCFD2
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Gene Name	multiple coagulation factor deficiency 2
Database Link	Entrez Gene 90411 Human UniProt ID Q8NI22
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

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