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Beschreibung

Asparagine synthetase [glutamine-hydrolyzing] (UniProt: P08243, also known as EC:6.3.5.4, Cell cycle control protein TS11, Glutamine-dependent asparagine synthetase) is encoded by the ASNS (also known as TS11) gene (Gene ID: 440) in human. Asparagine synthetase catalyzes the biosynthesis of L-asparagine from L-aspartate in an ATP-dependent manner. It contains one asparagine synthetase domain and one glutamine amidotransferase type-2 domain. ASNS transcription is enhanced by amino acid deprivation via a signal transduction pathway that senses amino acid availability. Mutations in ASNS gene are reported to result in asparagine synthetase deficiency that is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, and hyperekplexic activity. There has been much interest in the development of asparagine synthetase inhibitors for treatment of asparaginase-resistance leukemias and levels of asparagine synthetase have been considered as a potential biomarker in ovarian cancers.