Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Mucopolysaccharidosis_type_I
|
| gptkbp:encodes |
gptkb:alpha-L-iduronidase
|
| gptkbp:Entrez_Gene_ID |
3425
|
| gptkbp:enzymeCommissionNumber |
3.2.1.76
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
lysosomal degradation of glycosaminoglycans
|
| gptkbp:HGNC_ID |
5391
|
| https://www.w3.org/2000/01/rdf-schema#label |
alpha-L-iduronidase gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
gptkb:4p16.3 |
| gptkbp:mutationAssociatedWith |
deficiency causes Hurler syndrome
deficiency causes Hurler-Scheie syndrome deficiency causes Scheie syndrome |
| gptkbp:OMIM |
252800
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Idua
|
| gptkbp:symbol |
gptkb:IDUA
|
| gptkbp:UniProtID |
P35475
|
| gptkbp:bfsParent |
gptkb:IDUA_gene
|
| gptkbp:bfsLayer |
6
|