RecName: Full=Mediator of RNA polymerase II transcription subunit 17; - Protein

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An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. [J Neurogenet. 2022]
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R, Albalawi AM, Alaradi SR, Alluqmani M, Mushtaq M, Wali A, Basit S. J Neurogenet. 2022 Sep-Dec; 36(4):108-114. Epub 2022 Dec 12.
Increased unfolded protein responses caused by MED17 mutations. [Neurogenetics. 2021]
Increased unfolded protein responses caused by MED17 mutations.
Terabayashi T, Hashimoto S. Neurogenetics. 2021 Oct; 22(4):353-357. Epub 2021 Aug 15.
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. [Eur J Paediatr Neurol. 2021]
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Fattal-Valevski A, Ben Sira L, Lerman-Sagie T, Strausberg R, Bloch-Mimouni A, Edvardson S, Kaufman R, Chernuha V, Schneebaum Sender N, Heimer G, et al. Eur J Paediatr Neurol. 2021 May; 32:40-45. Epub 2021 Mar 5.

RefSeq genomic sequence
See the genomic reference sequence for the MED17 gene (NG_028028.1).
RefSeq protein
See the reference protein sequence for mediator of RNA polymerase II transcription subunit 17 (NP_004259.3).

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Q9NVC6 [Domain Mapping of Disease Mut...]
Q9NVC6
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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Reactome
reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Mediator of RNA polymerase II transcription subunit 17; AltName: F...
RecName: Full=Mediator of RNA polymerase II transcription subunit 17; AltName: Full=Activator-recruited cofactor 77 kDa component; Short=ARC77; AltName: Full=Cofactor required for Sp1 transcriptional activation subunit 6; Short=CRSP complex subunit 6; AltName: Full=Mediator complex subunit 17; AltName: Full=Thyroid hormone receptor-associated protein complex 80 kDa component; Short=Trap80; AltName: Full=Transcriptional coactivator CRSP77; AltName: Full=Vitamin D3 receptor-interacting protein complex 80 kDa component; Short=DRIP80
gi|296437366|sp|Q9NVC6.2|MED17_HUMA

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