6 articles
DNA-directed RNA polymerase III subunit RPC1
RPC1 (POLR3A, O14802), largest subunit of human RNA polymerase III; forms the catalytic core with RPC2; mutations cause POLR3-related leukodystrophy, Wiedemann-Rautenstrauch syndrome, and VZV susceptibility.
ELOC
ELOC (TCEB1, SIII) is a human gene at 8q21.11 encoding elongin C, a 112-residue adaptor in the Elongin/SIII transcription elongation factor and VCB-CR ubiquitin ligase; mutations cause VHL-like disease and ELOC-mutated renal cell carcinoma.
GTF2I
GTF2I, also known as TFII-I, is a human gene on chromosome 7 encoding a transcription factor; its deletion contributes to the social behavior traits of Williams-Beuren syndrome.
POLR2A
POLR2A (RPB1), human chromosome 17 gene encoding the largest 220-kDa subunit of RNA polymerase II with a 52-repeat YSPTSPS C-terminal domain; de novo variants cause a neurodevelopmental disorder, somatic mutations cause meningioma.
TAF1
TAF1 (TAFII250, CCG1, DYT3) is the largest subunit of TFIID, the basal transcription factor for RNA polymerase II initiation. X-linked gene at Xq13.1; SVA insertion in intron 32 causes X-linked dystonia-parkinsonism, missense variants cause MRXS33.
TAF15
TAF15 (RBP56, TAF2N, TAFII68) is a human FET-family DNA/RNA-binding protein, a TFIID subunit in RNA polymerase II transcription, implicated in acute leukemia, extraskeletal myxoid chondrosarcoma, and ALS through translocations and mutations.