Alpha-L-Iduronidase (IDUA) ELISA Kit for Rat

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]

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: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.2.1.76

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: lysosomal lumen

Molecular Function: L-iduronidase activity; receptor binding

Biological Process: glycosaminoglycan metabolic process; disaccharide metabolic process; dermatan sulfate catabolic process; cell morphogenesis; pathogenesis; limb morphogenesis; chemical homeostasis; chondroitin sulfate metabolic process; glycosaminoglycan catabolic process; skeletal morphogenesis; lysosome organization and biogenesis; chondroitin sulfate catabolic process; carbohydrate metabolic process

Disease: Hurler-scheie Syndrome; Scheie Syndrome; Hurler Syndrome