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NEDSCAC

Chr 9AR

mediator complex subunit 27

Also known as: CRAP34, CRSP34, CRSP8, MED3, NEDSCAC, TRAP37

NCBI Gene: 9442 OMIM: 619286

The protein encoded by this gene is a subunit of the CRSP complex and other multisubunit transcriptional complexes that work with cofactors to facilitate RNA polymerase II-mediated gene transcription. Biallelic mutations cause a neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, inherited in an autosomal recessive pattern. This multisystem condition affects the central nervous system, eyes, and cerebellum.

OMIM ResearchSummary from RefSeq, OMIM

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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]

OMIM ResearchGenerating clinical summary…