SHPK - sedoheptulokinase Gene

中文名称：景天庚酮激酶

种属: Homo sapiens

同用名: SHK; CARKL

关于 SHPK

功能概要

该基因编码的蛋白质与几种碳水化合物激酶具有弱同源性，碳水化合物激酶是一类在糖进入细胞时参与糖磷酸化的蛋白质，抑制返回穿过细胞膜。这种新基因和已知碳水化合物激酶之间的序列变异表明可能存在不同的底物、辅助因子或动力学特性的变化，从而将其与其他碳水化合物激酶区分开来。该基因位于胱氨酸病患者中通常缺失的区域，表明其作为胱氨酸病表型的修饰剂。基因组区域也富含 Alu 重复序列，经常参与染色体重排。[RefSeq 提供，2008 年 7 月]

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]