Cofactor Required for Sp1 Transcriptional Activation Subunit 6, 77kD (MED17) Antibody – Mouse Monoclonal

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq]

MED17: 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. Defects in MED17 are the cause of microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA). It is a disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. Belongs to the Mediator complex subunit 17 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor co-regulator; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 11q14

Cellular Component: nucleoplasm; transcription factor complex; membrane; Srb-mediator complex; nucleus

Molecular Function: protein binding; ligand-dependent nuclear receptor transcription coactivator activity; vitamin D receptor binding; transcription coactivator activity; transcription cofactor activity; receptor activity; thyroid hormone receptor binding

Biological Process: regulation of transcription from RNA polymerase II promoter; steroid hormone receptor signaling pathway; transcription initiation from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; stem cell maintenance; androgen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; gene expression

Disease: Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy