Has2 gene mutation
WebThis gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. WebMutations: SVs, CNVs, SNVs. Gene expression: GE, Protein, DEGE, CNV vs GE. Gene-Gene Network Information: ... References showing role of HAS2 in cancer cell metabolism: 1. Vigetti D, Passi A (2014) Hyaluronan synthases posttranslational regulation in cancer. Adv Cancer Res 123: 95-119. doi: 10.1016/B978-0-12-800092-2.00004-6. ...
Has2 gene mutation
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WebFeb 18, 2014 · Mutation analysis of the HAS2 gene. The sequence chromatogram (reverse strand) shows a heterozygous T>A transition which resulted in the substitution of glutamic acid by valine at codon 499. The … WebNational Center for Biotechnology Information
WebGene: HAS2; hyaluronan synthase 2. Location: 8q24.13. Summary: Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized … WebThe HARS2 gene provides instructions for making an enzyme called mitochondrial histidyl-tRNA synthetase. This enzyme is important in the production (synthesis) of …
WebMar 1, 2009 · HAS2 is present in chromosome 8q24.12, while HAS1 and HAS3 have been identified to loci 19q13.4 and 16q22.1 respectively. ... Developmental studies have … WebApr 14, 2016 · We have successfully generated Has2 mutations in two different RCS cell lines, RCS-o and RCS-Cas9—mutations that blocked the synthesis of HA in the resultant cloned cells. Has2 knockout cells lost the ability to assemble a HA / aggrecan-rich pericellular matrix and lost the capacity to retain exogenously added, purified aggrecan.
WebDec 1, 2016 · We have successfully generated Has2 mutations in two different RCS cell lines, RCS-o and RCS-Cas9—mutations that blocked the synthesis of HA in the …
WebHyaluronan is a component of the extracellular matrix, which affects tissue homeostasis. In this study, we investigated the regulatory mechanisms of one of the hyaluronan-synthesizing enzymes, HAS2. Ectopic expression of Flag- and 6myc-HAS2 in COS-1 cells followed by immunoprecipitation and immunoblotting revealed homodimers; after co-transfection with … bridge coffee loungeWebThe Dendra2·HAS2 disappearance from Golgi was slower for K190R. Of the two inactive constructs, K190R co-transfected with HAS2 wt suppressed, whereas T110A had no … bridge coffee companyWebThe gene view histogram is a graphical view of mutations across HAS2. These mutations are displayed at the amino acid level across the full length of the gene by default. … bridge coffee houseWebHAS2-AS1 Promotes Proliferation In Vitro and In Vivo To explore the biological functions of HAS2-AS1 during GBM proliferation, loss-of-function assays were performed in U87MG and U251 cells. bridge coffee cupWebSep 23, 2014 · This variant was strongly correlated with HAS2 mRNA expression. The strongest expression of the gene was detected in the lung. Conclusions. Our study … can two bands have the same nameWebMar 17, 2011 · The mutation is a 16.1 Kb duplication, the copy number of which correlates with HAS2 expression and disease. We suggest that the large amount of HA responsible … can two ball pythons live togetherWebMar 29, 2024 · Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] ... integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 … can two basketballs fit in a rim