YER022W

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Systematic name YER022W
Gene name SRB4
Aliases MED17
Feature type ORF, Verified
Coordinates Chr V:198812..200875
Primary SGDID S000000824


Description of YER022W: Subunit of the RNA polymerase II mediator complex; associates with core polymerase subunits to form the RNA polymerase II holoenzyme; essential for transcriptional regulation; homozygosity of the human MED17 L371P mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination[1][2][3]




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References

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  1. Kaufmann R, et al. (2010) Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex. Am J Hum Genet 87(5):667-70 SGD PMID 20950787
  2. Kornberg RD (2005) Mediator and the mechanism of transcriptional activation. Trends Biochem Sci 30(5):235-9 SGD PMID 15896740
  3. Thompson CM, et al. (1993) A multisubunit complex associated with the RNA polymerase II CTD and TATA-binding protein in yeast. Cell 73(7):1361-75 SGD PMID 8324825

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