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The antibody detects endogenous levels of total CARKL protein.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Carbohydrate kinase-like protein; Sedoheptulokinase; SHK
基因别名: 4930431K22Rik; AI194947; AW260459; CARKL; SHK; SHPK
UniProt ID: (Human) Q9UHJ6, (Mouse) Q9D5J6
Entrez Gene ID: (Human) 23729, (Rat) 287479, (Mouse) 74637
分子生物学功能: carbohydrate kinase