Ass 1
Ass 1
The ASS1 gene provides instructions for making an enzyme called argininosuccinate synthase 1. Learn about this gene and related health conditions.
Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene. [5][6][7] The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene ...
ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ] Gene ID: 445, updated on 8-Feb-2025 Download Datasets In addition, your package will include a detailed data report in both TSV and JSONL formats.
ASS1 (Argininosuccinate Synthase 1) is a Protein Coding gene. Diseases associated with ASS1 include Citrullinemia, Classic and Citrullinemia. Among its related pathways are superpathway of L-citrulline metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include RNA binding and amino acid binding.
The ASS1 gene encodes argininosuccinate synthetase-1 (EC 6.3.4.5), a cytosolic urea cycle enzyme mainly expressed in periportal hepatocytes, but also in most other body tissues. The enzyme is a homotetrameric protein composed of 45-kD monomers and is involved in the synthesis of arginine and catalyzes that condensation of citrulline and aspartate to argininosuccinate using ATP (summary by ...
ASS1 protein expression summary - The Human Protein Atlas ASS1 (ASS, CTLN1) protein expression summary.
ASS1 - argininosuccinate synthase 1 Synonym (s): CTLN1 Previous symbol (s) and name (s): ASS, argininosuccinate synthetase Type: gene with protein product Chromosomal location: 9q34.11 OMIM: 603470 HGNC: 758 UniProtKB: P00966 Genatlas: ASS1 GenCC: ASS1 Ensembl: ENSG00000130707 Reactome: P00966 LOVD: ASS1
Learn about the ASS1 gene, its role in argininosuccinate synthetase enzyme production, and its association with ASS1 deficiency, citrullinemia type 1, and other urea cycle disorders. Explore symptoms, diagnosis, treatment, and research advancements.
ASS1 argininosuccinate synthase 1 Gene ID: 445, updated on 18-Sep-2024 Gene type: protein coding Also known as: ASS; CTLN1 See all available tests in GTR for this gene Go to complete Gene record for ASS1 Go to Variation Viewer for ASS1 variants Summary The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies ...
Lim, Adler et al. show that the urea cycle enzyme ASS1 can function in the nucleus to supply fumarate necessary to drive DNA damage responses.
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