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IDUA

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I).
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Leydig cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (U-266/70)

Interaction

Monomer.

Molecular function

Glycosidase, Hydrolase

More Types Infomation

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