IDUA Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | IDUA |
| Official Name | alpha-L-iduronidase [Source:HGNC Symbol;Acc:HGNC:5391] |
| Ensembl ID | ENSG00000127415 |
| Bio databases IDs | |
| Aliases | alpha-L-iduronidase, mucopolysaccharidosis type I |
| Synonyms | 6030426D08, alpha-L-iduronidase, IDA, IDURONIDASE alpha-L-, iduronidase, alpha-L, IDURONIDASE α-L-, iduronidase, α-L, MPS1, MPSI, α-L-iduronidase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IDUA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- L-iduronidase
- Fibronectin-III type domain
- enzyme
- receptor binding
- Glycosyl hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- schizophrenia
- Alzheimer disease
- mucopolysaccharidosis type I
- mucopolysaccharidosis, type IH/S
- Hurler disease
- mucopolysaccharidosis, mps-I-s
- hearing loss
- calcium oxalate nephrolithiasis
- calcium oxalate nephrolithiasis type 1
regulates
- glycosaminoglycan
- chondroitin sulfate B
- sulfate
- heparan sulfate proteoglycan
- heparan sulfate
- disaccharide
- enzyme
- ganglioside GM3
- heparin
- hexosaminidase
role in cell
- function
- degeneration
- abnormal morphology
- number
- organization
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- lysosome
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IDUA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dermatan sulfate catabolic process
- heparan sulfate proteoglycan catabolic process
- heparin catabolic process
- disaccharide metabolic process
- glycosaminoglycan catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- lysosomal lumen
Molecular Function
What the gene product does at the molecular level
- L-iduronidase activity
- receptor binding