Entrez gene ID | | 23729 |
Official gene symbol | | SHPK |
Full name | | sedoheptulokinase |
Aliases | | ,CARKL,FLJ32478,SHK, |
Gene summary | | 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] |
Location | | Chromosome: 17 Locus: 17p13 |
Gene position | | 3539616 - 3511556 Map Viewer |
Gene orientation | | minus |
Gene size | | 28061 bp |
Gene sequence |
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OMIM ID | | 605060 |
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