{"symbol":"SHPK","synonyms":["SHK","CARKL"],"name":"sedoheptulokinase","description":"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]","ncbiEntrezGeneId":23729,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/23729","proteins":[{"symbol":"SHPK_HUMAN","href":"/api/1.0/protein/SHPK_HUMAN"}],"hgncRootFamilies":[]}