RFX5

Chr 1AR

regulatory factor X5

Also known as: MHC2D3, MHC2D5

NCBI Gene: 5993 ENSG00000143390 UniProt: P48382 OMIM: 601863

RFX5 encodes the 75-kD subunit of RFX, a nuclear protein complex that activates transcription from MHC class II promoters by binding to X-boxes in the promoter regions. Mutations cause MHC class II deficiency (bare lymphocyte syndrome), an autosomal recessive severe combined immunodeficiency presenting in early infancy with recurrent infections due to absent MHC class II expression on immune cells. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…