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). [provided by RefSeq, Jul 2008]
Function:
IDUA is 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. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) also known as Hurler syndrome, mucopolysaccharidosis type 1H/S (MPS1H/S) also known as Hurler-Scheie syndrome and mucopolysaccharidosis type 1S (MPS1S) also known as Scheie syndrome. MPS1S is a mild form whilst MPS1H is a severe form of this rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate.
Subunit:
Monomer.
Subcellular Location:
Lysosome
Tissue Specificity:
Ubiquitous.
Similarity:
Belongs to the glycosyl hydrolase 39 family.
SWISS:
P35475
Gene ID:
3425
Database links:
Entrez Gene: 3425 Human
Omim: 252800 Human
SwissProt: P35475 Human
Unigene: 89560 Human
|
|
