Mediator of RNA polymerase II transcription subunit 17 is an enzyme that in humans is encoded by the MED17 gene. [5] [6] [7] The activation of gene transcription is a multistep process that …

Mar 30, 2025 · MED17 (Mediator Complex Subunit 17) is a Protein Coding gene. Diseases associated with MED17 include Microcephaly, Postnatal Progressive, With Seizures And Brain …

This case along with review of the literature suggests that mutations in MED17 may define a phenotype characterized by progressive microcephaly, intellectual disability, seizures, …

L371P mutation in MED17 is a founder mutation in the Caucasus Jewish community and that homozygosity for this mutation is associated with infantile cerebral and cerebellar atrophy with …

The founder c.1112T>C mutation in MED17 gene is expressed by a unique and homogeneous clinical phenotype with distinctive MRI findings. This mutation should be considered in patients …

Increased unfolded protein responses caused by MED17 mutations. The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core …

Gene/transcipt that contains an open reading frame (ORF). Protein coding. A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest …

Jan 7, 2024 · Human mediator MED17 subunit plays essential roles in gene regulation by associating with the transcription and DNA repair machineries. Hepatic TRAP80 selectively …

HGNC Approved Gene Symbol: MED17. Cytogenetic location: 11q21 Genomic coordinates (GRCh38) : 11:93,784,282-93,814,963 (from NCBI) The Mediator is a multiprotein coactivator …

May 1, 2021 · Founder c.1112T>C mutation in MED17 gene in Caucasus Jews is expressed by infantile cerebral and cerebellar atrophy. Main clinical features are progressive microcephaly, …