Literature summary for 2.7.1.30 extracted from

Sjarif, D.R.; Hellerud, C.; van Amstel, J.K.; Kleijer, W.J.; Sperl, W.; Lacombe, D.; Sass, J.O.; Beemer, F.A.; Duran, M.; Poll-The, B.T.
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation (2004), Eur. J. Hum. Genet., 12, 424-432.

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Protein Variants

Protein Variants	Comment	Organism
E398D	naturally occurring mutation in patients with glyceroluria, causes a strong decrease in enzyme activity	Homo sapiens
L61P	naturally occurring mutation in patients with glyceroluria, causes an 5-10-fold increased Km for glycerol	Homo sapiens
additional information	a naturally occuring mutation in intron 3 causes the insertion of an additional exon	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + glycerol	Homo sapiens	enzyme deficiency causes hyperglycerolemia and glyceroluria	ADP + sn-glycerol 3-phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P32189	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	cultured	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + glycerol	-	Homo sapiens	ADP + sn-glycerol 3-phosphate	-	?
ATP + glycerol	enzyme deficiency causes hyperglycerolemia and glyceroluria	Homo sapiens	ADP + sn-glycerol 3-phosphate	-	?

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Release 2023.1 (January 2023)