Literature summary for 2.7.1.30 extracted from

Wibmer, T.; Otto, J.; Parhofer, K.G.; Otto, C.
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia (2005), Exp. Clin. Endocrinol. Diabetes, 113, 396-403.

Search for more literature for 2.7.1.30

Protein Variants

Protein Variants	Comment	Organism
G280A	naturally occurring mutation in a patient with glyceroluria, causes a strong decrease in enzyme activity, mutation affects a highly conserved amino acid in the ATP-binding domain	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, provides glycerol 3-phosphate which is an important intermediate between glucose and lipid metabolism	ADP + sn-glycerol 3-phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
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, provides glycerol 3-phosphate which is an important intermediate between glucose and lipid metabolism	Homo sapiens	ADP + sn-glycerol 3-phosphate	-	?

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Release 2023.1 (January 2023)