SHPK 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]

SHPK Details

Gene Symbol : SHPK

Gene Name : Sedoheptulokinase

Chromosome : CHR 17: 363,632,1-360,826,1

Locus : 17p13.2

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ADPRHL2 Summary

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

ADPRHL2 Details

Gene Symbol : ADPRHL2

Gene Name : ADP-ribosylhydrolase like 2

Chromosome : CHR 1: 360,888,51-360,939,31

Locus : 1p34.3

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