RFX5

Name

regulatory factor X5

Type

protein-coding

Position

151,340,640–151,347,339 (−)

Aliases

MHC2D3, MHC2D5

Ensembl

ENSG00000143390

RefSeq RNA

NM_000449.4, NM_001025603.2, NM_001379412.1, NM_001379413.1, NM_001379414.1

RefSeq protein

NP_000440.1, NP_001020774.1, NP_001366341.1, NP_001366342.1, NP_001366343.1

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].

via MyGene.info

Gene · Ensembl

regulatory factor X5

Symbol

RFX5

Biotype

Protein coding

Organism

Homo sapiens

Location

1:151,340,640-151,347,339

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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