ARG1 Gene - GeneCards | ARGI1 Protein | ARGI1 Antibody
网页2024年10月1日 · ARG1 (Arginase 1) is a Protein Coding gene. Diseases associated with ARG1 include Argininemia and Urea Cycle Disorder. Among its related pathways are superpathway of L-citrulline metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include manganese ion binding and arginase activity.
ARG1 (gene) - Wikipedia
网页The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia.
Arginase Deficiency - GeneReviews® - NCBI Bookshelf
网页2004年10月21日 · The diagnosis of arginase deficiency is established in a proband with suggestive clinical and/or biochemical findings and confirmed by identification of biallelic pathogenic variants in ARG1 or, in limited instances, by failure to detect arginase enzyme activity (usually <1% of normal) in red blood cell extracts.
ARG1 gene - MedlinePlus
网页2024年2月13日 · Arginase deficiency causes ammonia to accumulate gradually in the blood. The nervous system is especially sensitive to the effects of excess ammonia. Changes in the ARG1 gene can result in an arginase enzyme that is unstable, shorter than usual, or the wrong shape. Variants in the ARG1 gene may also prevent the enzyme from being produced at all.
Arginase: shedding light on the mechanisms and opportunities in ...
网页2022年10月8日 · ARG1 promotes M2 anti-inflammation response through blocking NO production from iNOS, but ARG2 induces pro-inflammatory cytokine production (TNF-α, IL-6, and MCP-1) in M1 via mitochondrial ROS ...
ARG1 arginase 1 [Homo sapiens (human)] - Gene - NCBI
网页2024年9月18日 · The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia.
ARG1-expressing microglia show a distinct molecular signature …
网页2023年5月11日 · Here we describe a microglial subtype expressing the enzyme arginase-1 (ARG1; that is, ARG1+ microglia) that is found predominantly in the basal forebrain and ventral striatum during early ...
ARG1 as a promising biomarker for sepsis diagnosis and …
网页2022年6月23日 · ARG1 was the only overlapped gene in both results and could be used to make an accurate diagnosis, discriminate the severity and predict the treatment response of sepsis.
ARG1 - an overview | ScienceDirect Topics
网页Comprising eight exons, the ARG1 gene localizes at position 6q23.2 and codes for the manganese-dependent enzyme catalyzing the conversion of L-arginine into L-ornithine and urea (arginase 1). Mutations causing decreased or absent expression of arginase 1 have been identified throughout the coding region of ARG1 , with a higher incidence of ...
Mutations and common variants in the human arginase 1 (ARG1) gene ...
网页The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment, and persistent growth retardation.