MCFD2 (NM_139279) Human Mass Spec Standard
CAT#: PH302230
MCFD2 MS Standard C13 and N15-labeled recombinant protein (NP_644808)
Specifications
Product Data | |
Tag | C-Myc/DDK |
Species | Human |
Expression Host | HEK293 |
Expression cDNA Clone or AA Sequence | RC202230 |
Predicted MW | 16.4 kDa |
Protein Sequence |
>RC202230 protein sequence
Red=Cloning site Green=Tags(s) MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQ ELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAE FAKSLQ TRTRPLEQKLISEEDLAANDILDYKDDDDKV |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Concentration | 50 ug/ml as determined by BCA |
Labeling Method | Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine |
Buffer | 100 mM glycine, 25 mM Tris-HCl, pH 7.3. Store at -80°C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions. |
Reference Data | |
RefSeq | NP_644808 |
RefSeq Size | 4196 |
RefSeq ORF | 438 |
Synonyms | F5F8D; F5F8D2; LMAN1IP; SDNSF |
Locus ID | 90411 |
UniProt ID | Q8NI22 |
Cytogenetics | 2p21 |
Summary | 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] |
Documents
FAQs |
Resources
Recombinant Protein Resources |
Other Versions
SKU | Description | Size | Price |
---|---|---|---|
LC408335 | MCFD2 HEK293T cell transient overexpression lysate (as WB positive control) |
USD 121.00 |
|
LY408335 | Transient overexpression lysate of multiple coagulation factor deficiency 2 (MCFD2), transcript variant 1 |
USD 396.00 |
|
TP302230 | Recombinant protein of human multiple coagulation factor deficiency 2 (MCFD2) |
USD 823.00 |
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