| Entrez gene ID | | 5993 |
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| Official gene symbol | | RFX5 |
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| Full name | | regulatory factor X, 5 (influences HLA class II expression) |
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| Aliases | | ,-, |
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| Gene 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] |
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| Location | | Chromosome: 1 Locus: 1q21 |
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| Gene position | | 151319769 - 151313116 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 6654 bp |
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| Gene sequence |
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