Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Mucopolysaccharidosis_type_II
gptkb:Hunter_syndrome |
| gptkbp:discoveredBy |
1980s
|
| gptkbp:encodes |
gptkb:iduronate_2-sulfatase
|
| gptkbp:Entrez_Gene_ID |
3425
ENSG00000127415 |
| gptkbp:enzymeCommissionNumber |
3.1.6.13
|
| gptkbp:fullName |
gptkb:iduronate_2-sulfatase
|
| gptkbp:function |
lysosomal enzyme
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
5384
|
| https://www.w3.org/2000/01/rdf-schema#label |
IDUR
|
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:location |
gptkb:Xq28
|
| gptkbp:mutationAssociatedWith |
deficiency causes Hunter syndrome
|
| gptkbp:OMIM |
300823
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:IdS
|
| gptkbp:RefSeq |
NM_000202
|
| gptkbp:UniProtID |
P22304
|
| gptkbp:bfsParent |
gptkb:IDUA_gene
|
| gptkbp:bfsLayer |
6
|