2024年12月25日 · MED17 (Mediator Complex Subunit 17) is a Protein Coding gene. Diseases associated with MED17 include Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy and Non-Syndromic Pontocerebellar Hypoplasia .

This case along with review of the literature suggests that mutations in MED17 may define a phenotype characterized by progressive microcephaly, intellectual disability, seizures, cerebellar atrophy of variable degree, and ataxia.

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 is triggered by factors that recognize transcriptional enhancer sites in DNA.

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 of Caucasus-Jewish ancestry presenting with clinical features and a MRI pattern of progressive cerebral and cerebe …

基因转录的激活是一个多步骤过程，由识别 DNA 中转录增强子位点的因素触发。 这些因子与共激活因子一起通过 RNA 聚合酶 II 装置指导转录起始。 该基因编码的蛋白质是 CRSP (SP1 激活所需的辅因子) 复合物的一个亚基，它与 TFIID 一起是 SP1 有效激活所必需的。 这种蛋白质也是其他多亚基复合物的组成部分，例如甲状腺激素受体- (TR-) 相关蛋白，它与 TR 相互作用并促进 TR 在 DNA 模板上与起始因子和辅因子一起发挥功能。 [RefSeq 提供，2008 年 7 月]

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 poor myelination.

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. Increased unfolded protein responses caused by MED17 mutations. The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core mediator Med17/TRAP80.

2021年5月1日 · MED17-related disorders present with different severity depending on the underlying gene mutations. 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, spastic quadriplegia and epilepsy.

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 coding sequence and is represented in other key resources, such as NCBI and UniProt.

2024年1月7日 · Human mediator MED17 subunit plays essential roles in gene regulation by associating with the transcription and DNA repair machineries. Hepatic TRAP80 selectively regulates lipogenic activity of liver X receptor.