NP_000194.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
73,455 Da
NCBI Official Full Name
alpha-L-iduronidase
NCBI Official Synonym Full Names
iduronidase, alpha-L-
NCBI Official Synonym Symbols
NCBI Protein Information
alpha-L-iduronidase
UniProt Protein Name
Alpha-L-iduronidase
NCBI Summary for 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). [provided by RefSeq, Jul 2008]
UniProt Comments for IDUA
IDUA: Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H); also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S); also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S); also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. Belongs to the glycosyl hydrolase 39 family.
Protein type: EC 3.2.1.76; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: lysosomal lumen
Molecular Function: L-iduronidase activity
Biological Process: chondroitin sulfate catabolic process; dermatan sulfate catabolic process; disaccharide metabolic process; glycosaminoglycan catabolic process
Disease: Hurler Syndrome; Hurler-scheie Syndrome; Scheie Syndrome
Research Articles on IDUA
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Products associated with IDUA elisa kit
Pathways associated with IDUA elisa kit
Diseases associated with IDUA elisa kit
Organs/Tissues associated with IDUA elisa kit
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