RFX3

Chr 9

regulatory factor X3

NCBI Gene: 5991 ENSG00000080298 UniProt: P48380 OMIM: 601337

The protein encoded by RFX3 is a transcription factor essential for ciliogenesis, regulating genes involved in ciliary assembly and motility, and also required for islet cell differentiation during pancreatic development. Mutations cause autosomal recessive primary ciliary dyskinesia with situs inversus and pancreatic islet cell dysfunction. The disorder affects respiratory function due to impaired ciliary motility and can involve laterality defects and endocrine pancreatic abnormalities.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P