2008年6月23日 · 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.

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.

2024年12月25日 · 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.

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.

Mediator complex subunit 12 (MED12) and cyclin C (CCNC), components of the Mediator cyclin-dependent kinase module, were found to be key regulators of T cell activation and effector function. When MED12 or CCNC was genetically inactivated in CAR T cells, increased T cell expansion, metabolic fitness, and tumor control were observed. —PNK

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.

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 …

2025年1月5日 · Gene target information for MED12 - mediator complex subunit 12 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.