IDUA Back

iduronidase, alpha-L-

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NCBI Description of IDUA
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).

Community Annotation of IDUA Add / Edit IDUA: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

IDUA is highly significantly mutated in
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IDUA is significantly mutated in
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IDUA is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for IDUA