Recombinant Human MCFD2 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: MCFD2-4405H
• Product Overview: MCFD2 MS Standard C13 and N15-labeled recombinant protein (NP_644808) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc&DDK
• Molecular Mass: 16.4 kDa
• AA Sequence: MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: MCFD2 multiple coagulation factor deficiency 2 [ Homo sapiens (human) ]
• Official Symbol: MCFD2
• Synonyms: MCFD2; multiple coagulation factor deficiency 2; multiple coagulation factor deficiency protein 2; F5F8D; LMAN1IP; SDNSF; neural stem cell derived neuronal survival protein; neural stem cell-derived neuronal survival protein; F5F8D2; DKFZp686G21263
• Gene ID: 90411
• mRNA Refseq: NM_139279
• Protein Refseq: NP_644808
• MIM: 607788
• UniProt ID: Q8NI22