Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeTo |
gptkb:IDU
|
| gptkbp:associatedWith |
gptkb:Mucopolysaccharidosis_type_I
|
| gptkbp:discoveredBy |
gptkb:Jean-Louis_Touraine
|
| gptkbp:encodes |
alpha-L-iduronidase (enzyme)
|
| gptkbp:Entrez_Gene_ID |
3425
ENSG00000127415 |
| gptkbp:expressedIn |
gptkb:lysosome
|
| gptkbp:fullName |
gptkb:alpha-L-iduronidase
|
| gptkbp:function |
hydrolyzes terminal alpha-L-iduronic acid residues of dermatan sulfate and heparan sulfate
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
5384
|
| https://www.w3.org/2000/01/rdf-schema#label |
IDUA
|
| gptkbp:locatedOnChromosome |
gptkb:4p16.3
4 |
| gptkbp:mutationAssociatedWith |
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome gptkb:Scheie_syndrome |
| gptkbp:OMIM |
252800
|
| gptkbp:orthologInMouse |
gptkb:Idua
|
| gptkbp:UniProtID |
P35475
|
| gptkbp:bfsParent |
gptkb:IDUA_gene
gptkb:alpha-L-iduronidase |
| gptkbp:bfsLayer |
6
|