MED12

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

mediator complex subunit 12

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Axis elongation involved in somitogenesis Source: Ensembl
Canonical Wnt signaling pathway Source: Ensembl
Embryonic brain development Source: Ensembl
Embryonic neurocranium morphogenesis Source: Ensembl
Endoderm development Source: Ensembl
Heart development Source: Ensembl
Neural tube closure Source: Ensembl
Oligodendrocyte development Source: Ensembl
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: MGI
Positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
Post-anal tail morphogenesis Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Schwann cell development Source: Ensembl
Spinal cord development Source: Ensembl
Stem cell population maintenance Source: Ensembl
Wnt signaling pathway, planar cell polarity pathway Source: Ensembl

Nucleus

Opitz-Kaveggia syndrome (OKS):
X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type (MRXSLF):
A disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum.
Ohdo syndrome, X-linked (OHDOX):
A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.