BRF1

Chr 14

BRF1 general transcription factor IIIB subunit

Also known as: BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90

NCBI Gene: 2972 ENSG00000185024 UniProt: Q92994

This gene encodes a subunit of the RNA polymerase III transcription factor complex that initiates transcription of tRNA, 5S rRNA, and other small structural RNAs. Mutations cause cerebellofaciodental syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.602), indicating that complete loss of function is likely incompatible with survival.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCerebellofaciodental syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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