Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
N-acetylglucosaminidase alpha
heparanase II |
| gptkbp:associatedWith |
Mucopolysaccharidosis type IIIB
|
| gptkbp:discoveredBy |
1970s
|
| gptkbp:encodes |
alpha-N-acetylglucosaminidase
|
| gptkbp:Entrez_Gene_ID |
4666
|
| gptkbp:enzymeCommissionNumber |
3.2.1.50
|
| gptkbp:expressedIn |
gptkb:lysosome
|
| gptkbp:fullName |
N-acetyl-alpha-glucosaminidase
|
| gptkbp:function |
lysosomal degradation of heparan sulfate
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:7636
|
| https://www.w3.org/2000/01/rdf-schema#label |
NAGLU
|
| gptkbp:length |
over 8 kb
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
17q21.1 |
| gptkbp:mutationAssociatedWith |
Sanfilippo syndrome type B
|
| gptkbp:numberOfExons |
6
|
| gptkbp:OMIM |
609701
|
| gptkbp:orthologInMouse |
Naglu
|
| gptkbp:pathway |
glycosaminoglycan degradation
lysosome pathway |
| gptkbp:PDB |
4XWH
|
| gptkbp:product |
alpha-N-acetylglucosaminidase
|
| gptkbp:UniProtID |
P54802
|
| gptkbp:bfsParent |
gptkb:17q11.2
|
| gptkbp:bfsLayer |
7
|