Full name: sedoheptulokinase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CARKL; SHK

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, Jul 2008]

Expression: Ubiquitous expression in kidney (RPKM 7.3), duodenum (RPKM 6.9) and 25 other tissues

Gene size: 28011bp

Exon count: 7