NSD1


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NSD1

A gene on chromosome 5q35 that encodes a protein that  enhances androgen receptor transactivation, especially in the presence of other androgen receptor-associated coregulators. NSD1 acts as a nucleus-localised, basic transcriptional factor and as a bifunctional transcriptional regulator.

Molecular pathology
NSD1 mutations cause Sotos syndrome and Weaver syndrome, as well as a form of childhood acute myeloid leukaemia with a cryptic translocation, with breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, trithorax domain protein 1 on chromosome 5 and nucleoporin 98-kD on chromosome 11.
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Mutation type Gene Chromosome Position Nonsynonymous SNV EGFR 7 55259515 Nonsynonymous SNV TP53 17 7579349 Synonymous SNV KMT2D (a) 12 49444973 Nonsynonymous SNV NSD1 5 176722183 Nonsynonymous SNV CREB3L1 11 46329492 Nonsynonymous SNV TPR 1 186324685 Nonsynonymous SNV TSC2 16 2121589 Mutation type Reference allele Mutant allele Mutant AF Nonsynonymous SNV T G 0.
The target price of the company has increased to NSD1.