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Proteintech
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Immunogen sequence: ILQALHECLA ALPRPQLRSV VGIGVSGQMH GVVFWKTGQG CEWTEGGITP VFEPRAVSHL VTWQDGRCSS EFLASLPQPK SHLSVATGFG CATIFWLLKY RPEFLKSYDA AGTIHDYVVA MLCGLPRPLM SDQNAASWGY FNTQSQSWNV ETLRSSGFPV HLLPDIAEPG SVAGRTSHMW FEIPKGTQV
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: CARKL; SHK; SHPK
UniProt ID: (Human) Q9UHJ6
Entrez Gene ID: (Human) 23729