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Iduronidase Alpha L (IDUa)

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MPS1

Iduronidase Alpha L (IDUa)
CCC H832
HGNC 5391
MGI 96418
PubMed 4993544
UniProt P35475
Wiki Iduronidase
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.Its deficiency is associated with mucopolysaccharidoses (MPS). MPS, a lysosomal storage disease, is typed I through VII. Type I is known 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH832Hu01 Recombinant Iduronidase Alpha L (IDUa) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAH832Hu21 Monoclonal Antibody to Iduronidase Alpha L (IDUa) WB; IHC; ICC; IP.
PAH832Hu01 Polyclonal Antibody to Iduronidase Alpha L (IDUa) WB; IHC; ICC; IP.
Assay Kits SEH832Hu ELISA Kit for Iduronidase Alpha L (IDUa) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Iduronidase Alpha L (IDUa) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Iduronidase Alpha L (IDUa) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Iduronidase Alpha L (IDUa) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Iduronidase Alpha L (IDUa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Iduronidase Alpha L (IDUa) ELISA Kit Customized Service Offer
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  15. "PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene."Hum. Genet. 90:327-327(1992) [PubMed] [Europe PMC] [Abstract]
  16. "Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype."Hum. Mol. Genet. 2:1471-1473(1993) [PubMed] [Europe PMC] [Abstract]
  17. "Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S)."Hum. Mutat. 6:55-59(1995) [PubMed] [Europe PMC] [Abstract]
  18. "Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene."Hum. Mutat. 6:91-94(1995) [PubMed] [Europe PMC] [Abstract]
  19. "Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency."Am. J. Hum. Genet. 58:75-85(1996) [PubMed] [Europe PMC] [Abstract]
  20. "A novel missense mutation in the human IDUA gene associated with a severe Hurler's phenotype."Hum. Mutat. 12:291-291(1998)
  21. "Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity."Clin. Genet. 56:66-70(1999) [PubMed] [Europe PMC] [Abstract]
  22. "Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S."Clin. Genet. 57:131-136(2000) [PubMed] [Europe PMC] [Abstract]
  23. "Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients."Mol. Genet. Metab. 78:37-43(2003) [PubMed] [Europe PMC] [Abstract]
  24. "Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy."Hum. Mutat. 24:199-207(2004) [PubMed] [Europe PMC] [Abstract]
  25. "Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein."Am. J. Med. Genet. A 149A:965-974(2009) [PubMed] [Europe PMC] [Abstract]
  26. "IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles." Hum. Mutat. 32:E2189-E2210(2011) [PubMed] [Europe PMC] [Abstract]
  27. "p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients."Clin. Genet. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]