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This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Modulation of the chromatin structure plays an important role in the regulation of transcription in eukaryotes. The nucleosome, made up of four core histone proteins (H2A, H2B, H3 and H4), is the primary building block of chromatin. The N-terminal tail of core histones undergoes different posttranslational modifications including acetylation, phosphorylation and methylation. These modifications occur in response to cell signal stimuli and have a direct effect on gene expression. In most spec
Distinct modifications of histone tails, such as acetylation, phosphorylation and methylation, regulate nuclear processes by organizing chromatin into higher order structures. Higher order chromatin influences chromosome function and epigenetic gene regulation. SUV39H2 is a 410 amino acid protein that localizes to the centromere and contains one SET domain, one pre-SET domain, one post-SET domain and one chromo domain. Expressed at high levels in adult testis, SUV39H2 functions as a histone
eRF3a is a 499 amino acid protein that belongs to the GTP-binding elongation factor family and is involved in the regulation of cell growth, specifically via control of translation termination. Human eRF3a shares 94% sequence identity with its mouse counterpart, suggesting a conserved function between species. The gene encoding eRF3a maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutatio
Leukotrienes are a group of bioactive compounds which play important roles in immediate hyposensitivity reactions and inflammation. Leukotriene A4 hydrolase hydrolyzes an epoxide moiety of leukotriene A4 (LTA4) to form leukotriene B4 (LTB4). The enzyme also has some peptidase activity.
Nox4 is a renal gp91-phox homolog highly expressed at the site of erythropoietin production in the proximal convoluted tubule epithelial cells of the renal cortex. Nox4 is also expressed in fetal tissues, placenta, glioblastoma and vascular cells. Like gp91-phox, the enzymatic activity of Nox4 produces superoxide anions. In vascular cells, the addition of angiotensin II increases Nox4 expression, which suggests a role for Nox-4 in vascular oxidative stress response.