Jun 23, 2008 · MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum.

Dec 25, 2024 · MED12 (Mediator Complex Subunit 12) is a Protein Coding gene. Diseases associated with MED12 include Opitz-Kaveggia Syndrome and Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type.

The MED12 gene provides instructions for making a protein called mediator complex subunit 12. As its name suggests, this protein forms one part (subunit) of the mediator complex, which is a group of about 25 proteins that work together to regulate gene activity.

MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer.

MED12 mutation as a potential predictive biomarker for immune checkpoint inhibitors in pan-cancer. A mediator complex subunit 12 gain-of-function mutation induces partial leiomyoma cell properties in human uterine smooth muscle cells.

This overview of MED12-related disorders may help to correlate clinical findings in such patients with sequence variants found in MED12. MED12 is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription.

Mediator complex subunit 12 (MED12) is a subunit of Mediator, a large multi-subunit protein complex that acts an important regulator of transcription. Specifically, MED12 is an integral part of the kinase module of Mediator along with MED13, CyclinC (CycC) and CDK8.

MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer.

HGNC Approved Gene Symbol: MED12. Mediator is a multiprotein complex that can function in transcriptional activation or repression depending on the factors with which it interacts. The Mediator subunit MED12 has roles in both transcriptional activation and …

May 17, 2016 · Med12-mediated suppression of NSC adhesion is a dynamically regulated process in vitro, enforced in self-renewing NSCs and alleviated during the course of neuronal differentiation.