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- Table of Contents
Facts about Sedoheptulokinase.
.
Human | |
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Gene Name: | SHPK |
Uniprot: | Q9UHJ6 |
Entrez: | 23729 |
Belongs to: |
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FGGY kinase family |
Carbohydrate kinase-like protein; carbohydrate kinase-like; CARKLEC 2.7.1.14; sedoheptulokinase; SHKFLJ32478
Mass (kDA):
51.491 kDA
Human | |
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Location: | 17p13.2 |
Sequence: | 17; NC_000017.11 (3608240..3636250, complement) |
Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain.
Cytoplasm.
PMID: 10673275 by Touchman J.W., et al. 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.
PMID: 18186520 by Wamelink M.M., et al. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.