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Results 1 - 6 of 6
EC Number Application Commentary Reference
Show all pathways known for 2.1.4.1Display the word mapDisplay the reaction diagram Show all sequences 2.1.4.1medicine creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain 688183, 690097
Show all pathways known for 2.1.4.1Display the word mapDisplay the reaction diagram Show all sequences 2.1.4.1medicine diagnosis of AGAT deficiency can be conformed by enzymatic assays in various cell types. The genetic defects can be proven by mutation analysis of the gene involved. Prenatal diagnosis is possible by mutation analysis 673131
Show all pathways known for 2.1.4.1Display the word mapDisplay the reaction diagram Show all sequences 2.1.4.1medicine diagnostic tool for biochemical diagnosis of creatine metabolism disorders 485979
Show all pathways known for 2.1.4.1Display the word mapDisplay the reaction diagram Show all sequences 2.1.4.1medicine enzyme is a target of the estrogen receptor, is involved in carcinogenesis, mental disorder, osteoporosis and cardiovascular disease 485978
Show all pathways known for 2.1.4.1Display the word mapDisplay the reaction diagram Show all sequences 2.1.4.1medicine presence of the enzyme in serum or urine may prove useful in development of kidney disease diagnosis, hyperornithinemia, an autosomal recessive disease caused by decreased enzyme activity, enzyme activity is also dimished in thyrotoxicosis and myotonic muscular dystrophy 485965, 485967, 485968
Show all pathways known for 2.1.4.1Display the word mapDisplay the reaction diagram Show all sequences 2.1.4.1medicine reaggregated brain cell three-dimensional cultures exposed to NH4Cl are used as an experimental model of hyperammonemia in the developing central nervous system 686537
Results 1 - 6 of 6