alpha-L-Iduronidase/IDUA Products

Description

a-L-Iduronidase is a member of the glycoside hydrolase family encoded by the IDUA gene (1). It is an important enzyme required for the lysosomal degradation of glycosaminoglycans (GAGS) and hydrolyzes the non-reducing terminal a-L-iduronic acid residues in GAGS including dermatan sulfate and heparan sulfate.  Human IDUA is a 653 aa protein composed of a signal peptide removed in the lysosome for mature form and three domains: a triosephosphate isomerase barrel fold containing the catalytic site, a B-sandwich domain, and an Ig(Ig)-like domain. The protein has six reported N-glycosylation sites and the glycosylation status of the enzyme correlates with its catalytic activity (1). More than 55-disease associated missense mutations in the IDUA gene have been identified (1). Mutations in IDUA that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I) (2). MPS I can be classified as three clinical subtypes; Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome with decreasing severity, respectively. MPS I causes progressive cellular, tissue and organ damage, and several clinical studies using enzyme replacement therapy show positive results (3,4). More recently, the IDUA gene has been linked to osteoporosis (5,6).

Bioinformatics

Uniprot	P35475.2
Product By Gene ID	3425
Alternate Names	alphaLIduronidase alpha-L-Iduronidase IDA IDUA MPS1 MPSI