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Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
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Customer Service: (800) 227-6666 / (650) 697-3600
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RFX5
regulatory factor X, 5 (influences HLA class II expression)
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.
| Gene Name: | regulatory factor X, 5 (influences HLA class II expression) |
| Synonyms: | RFX5, Binding regulatory factor, DNA-binding protein RFX5, Regulatory factor X 5 |
| Target Sequences: | NM_000449 NP_000440.1 P48382 |
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