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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Disease
Disease on EC 2.7.1.14 - sedoheptulokinase
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Cystinosis
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Cystinosis
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
Cystinosis
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
sedoheptulokinase deficiency
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency.
sedoheptulokinase deficiency
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
sedoheptulokinase deficiency
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Starvation
Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis.
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