WFS1 (NM_001145853) Human Mass Spec Standard

CAT#: PH327925

WFS1 MS Standard C13 and N15-labeled recombinant protein (NP_001139325)



  View other "WFS1" proteins (7)

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CNY 14,250.00


货期*
5周

规格
    • 10 ug

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Specifications

Product Data
Description WFS1 MS Standard C13 and N15-labeled recombinant protein (NP_001139325)
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC227925
Predicted MW 100.3 kDa
Protein Sequence
Tag C-Myc/DDK
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration >0.05 µg/µL as determined by microplate BCA method
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq NP_001139325
RefSeq Size 3636
RefSeq ORF 2670
Synonyms CTRCT41; WFRS; WFS; WFSL
Locus ID 7466
Cytogenetics 4p16.1
Summary This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Protein Families Druggable Genome, Transmembrane
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