MCFD2 Antilichaam

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.

90411

Q8NI22

Human, Mouse, Rat

Recombinant fusion protein containing a sequence corresponding to amino acids 27-146 of human MCFD2 (NP_644808.1) .

Unconjugated

Primary Antibodies

Signal Transduction

Affinity purification

A375

Batch dependent

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

None

Blue Ice

Store at -20˚ C. Avoid freeze / thaw cycles.

Observed: 16kDa

IgG

MCFD2

SW480

Mouse liver

Mouse kidney

Rat kidney

Multiple coagulation factor deficiency 2

Homo sapiens

F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency protein 2, neural stem cell-derived neuronal survival protein

WB, IHC

Liquid