Difference between revisions of "YER022W"
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| − | '''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; | + | '''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<ref name='S000138573'>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 {{SGDpaper|S000138573}} PMID 20950787</ref><ref name='S000082023'>Kornberg RD (2005) Mediator and the mechanism of transcriptional activation. Trends Biochem Sci 30(5):235-9 {{SGDpaper|S000082023}} PMID 15896740</ref><ref name='S000043970'>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 |
{{SGDpaper|S000043970}} PMID 8324825</ref> | {{SGDpaper|S000043970}} PMID 8324825</ref> | ||
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Revision as of 13:05, 15 August 2011
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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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- ↑ 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
- ↑ Kornberg RD (2005) Mediator and the mechanism of transcriptional activation. Trends Biochem Sci 30(5):235-9 SGD PMID 15896740
- ↑ 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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