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.

Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome. [5] Mutations in MED12 are responsible for at least two different forms of X-linked dominant mental retardation, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer. [6]

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.

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-related syndrome may result from a spontaneous variant in the MED12 gene in the sperm or egg during development. When a brand new genetic variant happens in the genetic code it is called a ‘de novo’ genetic variant. The child can be the first in the family to have the gene variant.

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.

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.

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 …

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.