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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

Reaction

ATP
+
sedoheptulose
=
ADP
+
sedoheptulose 7-phosphate

Synonyms

carbohydrate kinase-like protein, CARKL, CARKL-encoded protein, heptulokinase, kinase, sedoheptulo- (phosphorylating), SHK, SHPK

ECTree

     2 Transferases
         2.7 Transferring phosphorus-containing groups
             2.7.1 Phosphotransferases with an alcohol group as acceptor
                2.7.1.14 sedoheptulokinase

Disease

Disease on EC 2.7.1.14 - sedoheptulokinase

Please use the Disease Search for a specific query.
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Cystinosis
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
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.
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.
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
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.