| 简介 | 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]
Diseases associated with SHPK include Sedoheptulokinase Deficiency and Isolated Sedoheptulokinase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and sedoheptulokinase activity. An important paralog of this gene is FGGY.
Acts as a modulator of macrophage activation through control of glucose metabolism.
Down-regulated by LPS.
Cytoplasm {ECO:0000250}4 |
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