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SHPK / CARKL
sedoheptulokinase
SHPK / CARKL 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.
| Gene Name: | sedoheptulokinase |
| Synonyms: | SHPK, Carbohydrate kinase-like, CARKL, Sedoheptulokinase, SHK |
| Target Sequences: | NM_013276 NP_037408.2 Q9UHJ6 |
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