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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.

The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq, Oct 2008]

Transcription factor that plays an important role in cellular development and cell survival. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. Isoforms containing the KTS motif may

FGF1 also designated Heparin-binding growth factor 1 precursor (HBGF-1) ; Acidic fibroblast growth factor (aFGF). heparin-binding growth factors are angiogenic agents in vivo and are potent mitogens for a variety of cell types in vitro. There are differences in the tissue distribution and concentration of these 2 growth factors. Subunit si monomer.FGF1 belongs to the heparin-binding growth factors family. may play a role in neurite outgrowth; may regulate cell differentiation in the nervous s

Defects in CYLD are the cause of familial cylindromatosis (CYLD) also known as turban tumor syndrome or dermal eccrine cylindromatosis. CYLD is an autosomal dominant and highly tumor type-specific disorder. The tumors (known as cylindromas because of their characteristic microscopic architecture) are believed to arise from or recapitulate the appearance of the eccrine or apocrine cells of the skin that secrete sweat and scent respectively. Cylindromas arise predominantly in hairy parts of the

This protein tyrosine kinase transmembrane receptor is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a member of the CSF1/PDGF receptor family of tyrosine protein kinases and contains 5 immunogl