ELP2


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ELP2

A gene on chromosome 18q12.2 that encodes a protein which regulates the ligand-dependent activation of STAT3. ELP2 acts as subunit of the RNA polymerase-II elongator complex, a histone acetyltransferase component of the RNA polymerase-II (Pol-II) holoenzyme involved in transcriptional elongation. The elongator complex acetylates histone H3 and possibly also H4, and it may play a role in chromatin remodelling.
References in periodicals archive ?
Ambry Genetics' Clinical Diagnostic Exome test revealed that their condition is a form of autosomal recessive intellectual disability precisely caused by mutations in the ELP2 gene.