BRF1
Function
General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter.
Involvement in disease
Cerebellofaciodental syndrome
CFDS
An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TFIIB family.
Cellular localization
- Nucleus
Alternative names
BRF, GTF3B, TAF3B2, TAF3C, BRF1, Transcription factor IIIB 90 kDa subunit, TFIIIB90, hTFIIIB90, B-related factor 1, BRF-1, hBRF