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  • Mutations
  • Mutations of this transcription factor can lead to poorly developed placenta and tissues. (wikipedia.org)
  • Mutations in the AP-2 alpha gene also cause branchio-oculo-facial syndrome, which has overlapping features with Van der Woude syndrome such as orofacial clefting and occasional lip pits what make rs642961 a good candidate for an etiological variant. (wikipedia.org)
  • mRNA
  • Seven of 30 carcinoma specimens displayed a moderate or strong mRNA signal, despite being negative for AP-2α protein. (bmj.com)
  • regulation
  • 1 AP-2 has also been reported to be involved in the regulation of various genes, including those encoding p21, c-KIT, MCAM (MUC18), type IV collagenase, c-MYC, c-erbB-2, E-cadherin, and the cytokeratins. (bmj.com)
  • novel
  • The AP-1 subunit Jun was identified as a novel oncoprotein of avian sarcoma virus, and Fos-associated p39 protein was identified as the transcript of the cellular Jun gene. (wikipedia.org)
  • Pathway
  • These findings show that IRF6 and AP-2 alpha are in the same developmental pathway and identify a variant in a regulatory region that contributes substantially to a common complex disorder. (wikipedia.org)
  • AMOTL2 is also known to be an inhibitor of Wnt signaling, a pathway with known associations to cancer development, and to be a factor for angiogenesis, a process essential to tumour maintenance and metastasis. (wikipedia.org)
  • FHL-2 is thought to have a role in the assembly of extracellular membranes and may function as a link between presenilin-2 and an intracellular signaling pathway. (wikipedia.org)
  • alpha
  • AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. (uniprot.org)
  • OriGene Technologies offers a panel of antibodies to AP-2 (alpha, beta, gamma). (acris-antibodies.com)
  • This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and, thus, plays a role in the stimulation of hypoxia-induced genes such as VEGF. (wikipedia.org)
  • Transcription factor AP-2 alpha is expressed in ectoderm and in neural-crest cells migrating from the cranial folds during closure of the neural tube in the mouse. (wikipedia.org)
  • AP-2 alpha knockout mice die perinatally with cranio-abdominoschisis and severe dysmorphogenesis of the face, skull, sensory organs, and cranial ganglia. (wikipedia.org)
  • In vivo gene delivery of AP-2 alpha suppressed spontaneous intestinal polyps in the Apc(Min/+) mouse. (wikipedia.org)
  • A disruption of an AP-2 alpha binding site in an IRF6 enhancer is associated with cleft lip. (wikipedia.org)
  • Analysis of transcription factor binding site analysis showed that the risk allele disrupt a binding site for AP-2 alpha. (wikipedia.org)
  • This gene is important because it provides the blueprint for the arrangement of 437 amino acids that make up the protein transcription factor known as AP-2 alpha. (wikipedia.org)
  • clarification needed] AP-2 alpha is especially important during the embyros development principally in the development of the branchial arches. (wikipedia.org)
  • IL-2 signals through the IL-2 receptor, a complex consisting of three chains, termed alpha, beta and gamma. (wikipedia.org)
  • chromosome
  • AP-2α is a 52-kDa protein mapped to the short arm of chromosome 6 near the HLA locus (1) , a common molecular abnormality found in human astrocytomas. (aacrjournals.org)
  • Superoxide dismutase 2, mitochondrial (SOD2), also known as manganese-dependent superoxide dismutase (MnSOD), is an enzyme which in humans is encoded by the SOD2 gene on chromosome 6. (wikipedia.org)