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RFX5 Full-Length MS Protein Standard

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Product Description


NameRFX5 Full-Length MS Protein Standard
Cat#CPFL312448
Protein Nameregulatory factor X, 5 (influences HLA class II expression)
SymbolRFX5
Synonymsregulatory factor X, 5 (influences HLA class II expression); OTTHUMP00000082795; OTTHUMP00000196318; regulatory factor X, 5
AccessionNM_001025603
Cytogenetic1q21
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionRFX5 Full-Length MS Protein Standard (NP_001020774), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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.

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