RFX1

Chr 19

regulatory factor X1

Also known as: EFC, RFX

NCBI Gene: 5989 ENSG00000132005 UniProt: P22670 OMIM: 600006

This protein is a transcription factor that regulates MHC class II gene expression and binds to specific DNA sequences including X boxes of MHC class II genes and regulatory elements of hepatitis B virus and ribosomal protein genes. Mutations cause neurodevelopmental disorders with intellectual disability, though the specific phenotypic spectrum and inheritance pattern require further clinical characterization. The gene is highly constrained against loss-of-function variants (pLI = 0.997, LOEUF = 0.273), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted