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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There were no significant differences related to the expression of CTBP1 and NSD1 genes between the GC and control groups (fold change<2, p>0.05) (Table 3) (Figure 1, 2).
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 0.315 Nonsynonymous SNV A C 0.178 Synonymous SNV T A 0.167 Nonsynonymous SNV A C 0.083 Nonsynonymous SNV A T 0.076 Nonsynonymous SNV C A 0.075 Nonsynonymous SNV T G 0.072 (a) KMT2D, lysine (K)-specific methyltransferase 2D; NSD1, nuclear receptor binding SET domain protein 1; CREB3L1, cAMP responsive element binding protein 3-like 1; TPR, translocated promoter region, nuclear basket protein; TSC2, tuberous sclerosis 2.
(2,41,42) Sindromes Retardo Mental Talla * Perimetro Cefalico * Sindrome de Leve a moderado +++ + + X Fragil Sindrome Leve a +++ + + + de Sotos problemas en el aprendizaje Sindrome de Leve a moderado + + + Prader-Willi Sindrome de Ausente o leve +++ + + Klinefelter Sindromes Tamano Peso * Pruebas testicular * diagnosticas Sindrome de ++ + ++/+++ PCR, Southern X Fragil Blot Sindrome ++ + + Secuenciacion de Sotos y/o FISH gen NSD1 Sindrome de + + + + FISH 15q11.2-q13 Prader-Willi Sindrome de + ++/+++ Cariotipo Klinefelter * Se utilizan las siguientes convenciones: + menor que en la poblacion general; ++ similar que en la poblacion general; +++ mayor que en la poblacion general.
The target price of the company has increased to NSD1.74 from NZD1.60.