RFX5 (NM_001025603) Human Recombinant Protein
Recombinant protein of human regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2
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|Description||Recombinant protein of human regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2|
|Expression cDNA Clone or AA Sequence||Recombinant protein was produced with TrueORF clone, RC212448. Click on the TrueORF clone link to view cDNA and protein sequences.|
|Predicted MW||65.1 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. Store at –80C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.|
|Synonyms||regulatory factor X, 5 (influences HLA class II expression); OTTHUMP00000082795; OTTHUMP00000196318; regulatory factor X, 5|
|Summary||A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008].|
|Protein Families||Transcription Factors|
|Protein Pathways||Antigen processing and presentation, Primary immunodeficiency|