Product Data | |
Description | Recombinant protein of human peripheral myelin protein 22 (PMP22), transcript variant 1 |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC216500. Click on the TrueORF clone link to view cDNA and protein sequences. |
Tag | C-Myc/DDK |
Predicted MW | 17.7 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 | 5376 |
Refseq Size | 1861 |
Cytogenetics | 17p12 |
Refseq ORF | 480 |
Synonyms | CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3; HMSNIA; HNPP; Sp110 |
Summary | This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
Protein Families | Transmembrane |
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