GTX56060
MCFD2 antibody
Cannot supply to this region.
- SKU:
- GTX56060
- Additional Names:
- multiple coagulation factor deficiency 2 , F5F8D , F5F8D2 , LMAN1IP , SDNSF
- Application:
- WB
- Physical State:
- Liquid
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Host:
- Rabbit
- Reactivities:
- Human, Rat
- Buffer:
- 0.42% Potassium Phosphate, 0.87% NaCl, 30% Glycerol, 0.01% Sodium azide.
- Immunogen:
- KLH-conjugated synthetic peptide encompassing a sequence within the N-term region of MCFD2. The exact sequence is proprietary.
- Uniprot:
- Q8NI22
- Synonyms:
- F5F8D;F5F8D2;LMAN1IP;multiple coagulation factor deficiency protein 2;neural stem cell-derived neuronal survival protein;SDNSF
- Extra Details:
- 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. [provided by RefSeq, Apr 2016]
- Shipping Conditions:
- Blue Ice