2.7.1.14: sedoheptulokinase
This is an abbreviated version!
For detailed information about sedoheptulokinase, go to the full flat file.
Word Map on EC 2.7.1.14
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2.7.1.14
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pentose
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cystinosis
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nephropathic
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erythritol
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medicine
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cystine
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sedoheptulose-7-phosphate
- 2.7.1.14
- pentose
- cystinosis
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nephropathic
- erythritol
- medicine
- cystine
- sedoheptulose-7-phosphate
Reaction
Synonyms
carbohydrate kinase-like protein, CARKL, CARKL-encoded protein, heptulokinase, kinase, sedoheptulo- (phosphorylating), SHK, SHPK
ECTree
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Application on EC 2.7.1.14 - sedoheptulokinase
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medicine
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sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose
medicine
patient with an isolated sedoheptulokinase deficiency presents with neonatal cholestasis, hypoglycemia, and anemia, while a second patient presents with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients have elevated excretion of erythritol and sedoheptulose, and each has a homozygous nonsense mutation in sedoheptulokinase. In fibroblasts from patient 1, strongly reduced formation of sedoheptulose 7-phosphate is detected, but no mature enzyme. It is questionable whether enzyme deficiency is a causal factor for the clinical phenotypes of the patients