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Alpha-L-iduronidase

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CATALYTIC ACTIVITY: Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate. .

Below are the list of possible Alpha-L-iduronidase products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Alpha-L-iduronidase

 Alpha-L-iduronidase ELISA Kit
 Alpha-L-iduronidase Recombinant
 Alpha-L-iduronidase Antibody
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 h
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epatosplenomegaly, 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
 IDUA ELISA Kit
 IDUA Recombinant
 IDUA Antibody
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