Product Data | |
Description | Purified recombinant protein of Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2 |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC227925. Click on the TrueORF clone link to view cDNA and protein sequences. |
Tag | C-Myc/DDK |
Predicted MW | 100.1 kDa |
Concentration | >50 ug/mL as determined by microplate BCA method |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
Reference Data | |
Locus ID | 7466 |
Refseq Size | 3636 |
Cytogenetics | 4p16.1 |
Refseq ORF | 2670 |
Synonyms | CTRCT41; WFRS; WFS; WFSL |
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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