Iduronidase

Iduronidase

protein
Name = iduronidase, α-L-
caption =


width =
HGNCid = 5391
Symbol = IDUA
AltSymbols =
EntrezGene = 3425
OMIM = 252800
RefSeq = NM_000203
UniProt = P35475
PDB =
ECnumber = 3.2.1.76
Chromosome = 4
Arm = p
Band = 16.3
LocusSupplementaryData =

Iduronidase is an enzyme involved in the degeneration of glycosaminoglycans such as dermatan sulfate and heparan sulfate. It is found in the lysosomes of cells.

Pathology

Its deficiency is associated with mucopolysaccharidoses (MPS). MPS, a lysosomal storage disease, is typed I through VII. Type I is know as Hurler syndrome and type I,S is known as Scheie syndrome, which has a milder prognosis compared to Hurlers. The glycosaminoglycans accumulate in the lysosomes and cause substantial disease in many different tissues of the body.

The defective alpha-L-iduronidase results in an accumulation of heparin and dermatin sulfate within phagocytes, endothelium, smooth muscle cells, neurons, and fibroblasts. Underneath electron microscopy these structure present as laminated structures, Zebra bodies.

Prenatal diagnosis of this enzyme deficiency is possible.

External links

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Look at other dictionaries:

  • Iduronidase — Vorhandene Strukturdaten …   Deutsch Wikipedia

  • iduronidase — (= a 1 iduronidase) EC 3.2.1.76. An enzyme (653 amino acids in human) that hydrolyses the bonds between iduronic acid and N acetylgalactosamine 4 sulphate; a lysosomal enzyme absent in Hurler s disease …   Dictionary of molecular biology

  • Α-L-Iduronidase — Iduronidase Vorhandene Strukturdaten: 1Y24 …   Deutsch Wikipedia

  • α-l-iduronidase — An enzyme that hydrolyzes terminal desulfated α l iduronic acid residues of dermatan sulfate and of heparan sulfate; a deficiency of this enzyme is associated with Hurler syndrome and Scheie syndrome …   Medical dictionary

  • L-iduronidase — L idu·ron·i·dase (i″du ronґĭ dās) [EC 3.2.1.76] an enzyme of the hydrolase class that catalyzes the hydrolysis of terminal desulfated α L iduronic acid residues of dermatan sulfate and heparan sulfate, a step in the… …   Medical dictionary

  • IDUA — iduronidase …   Medical dictionary

  • IDUA — • iduronidase …   Dictionary of medical acronyms & abbreviations

  • IDUA — Iduronidase Vorhandene Strukturdaten: 1Y24 …   Deutsch Wikipedia

  • Laronidase — Iduronidase Vorhandene Strukturdaten: 1Y24 …   Deutsch Wikipedia

  • Gargoylismus — Klassifikation nach ICD 10 E76 Störungen des Glykosaminoglykan Stoffwechsels Mukopolysaccharidose …   Deutsch Wikipedia

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