CARKL Products

Description

CARKL is 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]

Bioinformatics

Entrez	23729 Human
Uniprot	Q9UHJ6 Human NM_013276 Human NP_037408.2 Human
Product By Gene ID	23729
Alternate Names	Carbohydrate kinase-like protein CARKLEC 2.7.1.14 SHKFLJ32478 carbohydrate kinase-like sedoheptulokinase

Diseases related to CARKL

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Cystinosis
Lysosomal Storage Diseases
Steroid Sulfatase Deficiency Disease
Storage Disease

Pathways for CARKL

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Transport
Macrophage Activation

PTMs for CARKL

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Phosphorylation
Cleavage

Bioinformatics Tool for CARKL

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