The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SHPK-20-RE | 20 (40 μL) | 200 μL |  |
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| SHPK-20-OR | 20 (40 μL) | 200 μL |  |
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| SHPK-20-GO | 20 (40 μL) | 200 μL |  |
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| SHPK-20-GR | 20 (40 μL) | 200 μL |  |
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| SHPK-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]
Gene Symbol : SHPK
Gene Name : Sedoheptulokinase
Chromosome : CHR 17: 363,632,1-360,826,1
Locus : 17p13.2
Alt. Genes : FEM1B
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