2.1.4.1: glycine amidinotransferase
This is an abbreviated version!
For detailed information about glycine amidinotransferase, go to the full flat file.
Word Map on EC 2.1.4.1
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2.1.4.1
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creatine
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guanidinoacetate
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homoarginine
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slc6a8
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harg
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phosphocreatine
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medicine
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creatine-deficient
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transamidination
- 2.1.4.1
- creatine
- guanidinoacetate
- homoarginine
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slc6a8
- harg
- phosphocreatine
- medicine
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creatine-deficient
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transamidination
Reaction
Synonyms
AGAT, arginine-glycine amidinotransferase, arginine-glycine transamidinase, arginine:glycine amidinotransferase, CyrA, EC 2.6.2.1, GAT, GATM, glycine amidinotransferase, glycine aminotransferase, glycine transamidinase, L-arginine:glycine amidinotransferase
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Application
Application on EC 2.1.4.1 - glycine amidinotransferase
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medicine
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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
medicine
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enzyme is a target of the estrogen receptor, is involved in carcinogenesis, mental disorder, osteoporosis and cardiovascular disease
medicine
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diagnostic tool for biochemical diagnosis of creatine metabolism disorders
medicine
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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
medicine
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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
medicine
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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
medicine
reaggregated brain cell three-dimensional cultures exposed to NH4Cl are used as an experimental model of hyperammonemia in the developing central nervous system