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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SHPK (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23729
Official gene symbolSHPK
Full namesedoheptulokinase
Aliases,CARKL,FLJ32478,SHK,
Gene summaryThe 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]
LocationChromosome: 17   Locus: 17p13
Gene position3539616 - 3511556  Map Viewer
Gene orientationminus
Gene size28061 bp
Gene sequence
OMIM ID605060