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Arginine:glycine amidinotransferase deficiency or AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine amidinotransferase. This enzyme deficiency results in decreased creatine synthesis, and is caused by biallelic pathogenic variants in GATM .
L-Arginine:glycine amidinotransferase catalyses the first, which is also the committed step in the formation of creatine. The second step of the process, producing the actual creatine molecule, occurs solely in the cytosol, where the second enzyme, S-adenosylmethionine:guanidinoacetate methyltransferase (GAMT), is found.
Creatine is synthesized predominantly in the kidney and liver, by a two-step enzymatic process. In the first step, glycine and arginine are combined by arginine:glycine amidinotransferase (AGAT) to form guanidinoacetate. This step also results in the production of ornithine. Creatine is produced by the enzyme guanidinoacetate methyltransferase ...
The creatine phosphate system is needed for the storage and transmission of phosphate-bound energy in the brain and muscle. The brain and muscle have particularly high metabolic demands, therefore, making creatine a necessary molecule in ATP homeostasis.
Is it Good for Women to Take Creatine? Women’s health guru Dr. Mary Claire Haver cites a 2021 study in the science journal Nutrients to explain why creatine is a critical daily supplement for ...
2628 67092 Ensembl ENSG00000171766 ENSMUSG00000027199 UniProt P50440 Q9D964 RefSeq (mRNA) NM_001482 NM_001321015 NM_025961 RefSeq (protein) NP_001307944 NP_001473 NP_080237 Location (UCSC) Chr 15: 45.36 – 45.4 Mb Chr 2: 122.42 – 122.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene ...
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