Literature summary extracted from

Wamelink, M.M.; Struys, E.A.; Jansen, E.E.; Levtchenko, E.N.; Zijlstra, F.S.; Engelke, U.; Blom, H.J.; Jakobs, C.; Wevers, R.A.
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene (2008), Hum. Mutat., 29, 532-536.

Application

EC Number	Application	Comment	Organism
2.7.1.14	medicine	sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
2.7.1.14	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
2.7.1.14	ATP + sedoheptulose	-	Homo sapiens	ADP + sedoheptulose 7-phosphate	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
2.7.1.14	CARKL-encoded protein	-	Homo sapiens
2.7.1.14	SHK	-	Homo sapiens

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Release 2023.1 (January 2023)