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.
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Protein Aliases: Carbohydrate kinase-like protein; Sedoheptulokinase; SHK
Gene Aliases: CARKL; SHK; SHPK
UniProt ID: (Human) Q9UHJ6
Entrez Gene ID: (Human) 23729