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Literature summary extracted from

  • van der Sluis, R.; Badenhorst, C.P.; Erasmus, E.; van Dyk, E.; van der Westhuizen, F.H.; van Dijk, A.A.
    Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway (2015), Gene, 571, 126-134.
    View publication on PubMed

Application

EC Number Application Comment Organism
2.3.1.71 medicine in a small cohort of South African Caucasian individuals, the two most prominent GLYAT haplotypes in all populations analysed, are S156 (70%) and T17S156 (20%). The S156C199 and S156H131 haplotypes, which have a negative effect on the enzyme activity of a recombinant human GLYAT, are detected at very low frequencies. An additional Q61L SNP occurring at a high frequency (12%) was detected Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.3.1.71
-
 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.13 F168L the mutation has a negative effect on the enzyme activity Homo sapiens
2.3.1.13 N156S the mutation has a negative effect on the enzyme activity Homo sapiens
2.3.1.13 Q61L the mutation has a negative effect on the enzyme activity Homo sapiens
2.3.1.13 R131H the mutation has a negative effect on the enzyme activity Homo sapiens
2.3.1.13 R199C the mutation has a negative effect on the enzyme activity Homo sapiens
2.3.1.13 S17T the mutation has a negative effect on the enzyme activity Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.3.1.13 acyl-CoA + glycine Homo sapiens
-
 CoA + N-acylglycine
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.13 Homo sapiens Q6IB77
-
-
2.3.1.71 Homo sapiens Q6IB77
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.13 blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.13 acyl-CoA + glycine
-
 Homo sapiens CoA + N-acylglycine
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.3.1.13 GlyAT
-
 Homo sapiens