MED17 gene

mediator complex subunit 17

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Microcephaly, postnatal progressive, with seizures and brain atrophy

From UniProt:

Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA): 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. [MIM:613668]

Cytogenetic Location: 11q21, which is the long (q) arm of chromosome 11 at position 21

Molecular Location: base pairs 93,784,239 to 93,813,330 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q21, which is the long (q) arm of chromosome 11 at position 21
  • CRSP6
  • CRSP77
  • DRIP80
  • TRAP80