Gene
idua
- ID
- ZDB-GENE-060526-29
- Name
- alpha-L-iduronidase
- Symbol
- idua Nomenclature History
- Previous Names
-
- si:ch211-12e13.9 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have L-iduronidase activity. Predicted to be involved in carbohydrate metabolic process. Human ortholog(s) of this gene implicated in Scheie syndrome; mucopolysaccharidosis I; mucopolysaccharidosis Ih; and mucopolysaccharidosis Ih/s. Orthologous to human IDUA (alpha-L-iduronidase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mucopolysaccharidosis Ih | Alliance | Mucopolysaccharidosis Ih | 607014 |
| mucopolysaccharidosis Ih/s | Alliance | Mucopolysaccharidosis Ih/s | 607015 |
| Scheie syndrome | Alliance | Mucopolysaccharidosis Is | 607016 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR049165 | Glycosyl hydrolases family 39, active site |
| Domain | IPR049166 | Glycosyl hydrolases family 39, N-terminal catalytic domain |
| Domain | IPR049167 | Alpha-L-iduronidase, C-terminal domain |
| Family | IPR000514 | Glycoside hydrolase, family 39 |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR017853 | Glycoside hydrolase superfamily |
Domain Details Per Protein
| Protein | Length | Alpha-L-iduronidase, C-terminal domain | Glycoside hydrolase, family 39 | Glycoside hydrolase superfamily | Glycosyl hydrolases family 39, active site | Glycosyl hydrolases family 39, N-terminal catalytic domain | Immunoglobulin-like fold |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PQU4
|
637 | ||||||
|
UniProtKB:A2ARH2
|
637 | ||||||
|
UniProtKB:A0A8M9PRM9
|
637 |
Interactions and Pathways
No data available
Plasmids
No data available