🧬 基因注释：RFX5

官方名称：regulatory factor X5

功能摘要：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].

• PTBP1 综合评分: 0.522 · 证据 2 条
• HNRNPC 综合评分: 0.510 · 证据 2 条
• HNRNPA2B1 综合评分: 0.448 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• CELF2 综合评分: 0.324 · 证据 2 条
• PCBP2 综合评分: 0.324 · 证据 1 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• Tardbp 综合评分: 0.310 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• GRSF1 综合评分: 0.274 · 证据 2 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条

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