EMSY is the acronym for "EMSY Transcriptional Repressor, BRCA2 Interacting" and refers to a protein-coding gene located on chromosome 11q13.5. The encoded protein acts as a regulator capable of repressing transcription, possibly via its interaction with a multiprotein chromatin restructuring complex that modifies chromatin . Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (Hughes-Davies L et al. 2003; Rodriguez C et al. 2004). Mediates ligand-dependent transcriptional activation through nuclear hormone receptors.
EMSY gene
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Diseases associated with EMSY include sporadic breast cancer and peanut allergy (Asai Yet al. 2018). Its related signaling pathways include the Mesodermal Commitment Pathway.
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- Asai Yet al. (2018) Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy. J Allergy Clin Immunol 141:991-1001.
- Hughes-Davies L et al (2003) EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell 115:523-535.
- Rodriguez C et al (2004) Amplification of the BRCA2 pathway gene EMSY in sporadic breast cancer is related to negative outcome. Clin Cancer Res 10:5785-5791.