|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:MPS6
gptkb:arylsulfatase_B
gptkb:ASB
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Mucopolysaccharidosis_type_VI
|
|
gptkbp:discoveredBy
|
Yutaka Suzuki et al.
|
|
gptkbp:encodes
|
arylsulfatase B protein
|
|
gptkbp:Entrez_Gene_ID
|
415
|
|
gptkbp:enzymeCommissionNumber
|
3.1.6.12
|
|
gptkbp:expressedIn
|
gptkb:kidney
heart
liver
collagen
|
|
gptkbp:firstDescribed
|
1987
|
|
gptkbp:fullName
|
arylsulfatase B gene
|
|
gptkbp:function
|
lysosomal degradation of glycosaminoglycans
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
711
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ARSB gene
|
|
gptkbp:involvedIn
|
glycosaminoglycan catabolic process
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
gptkb:5q14.1
|
|
gptkbp:mutationAssociatedWith
|
deficiency causes Maroteaux-Lamy syndrome
|
|
gptkbp:OMIM
|
611542
|
|
gptkbp:orthologInMouse
|
Arsb
|
|
gptkbp:orthologInZebrafish
|
arsb
|
|
gptkbp:pathway
|
metabolism of carbohydrates
lysosome pathway
disease pathway
|
|
gptkbp:product
|
gptkb:N-acetylgalactosamine-4-sulfatase
|
|
gptkbp:UniProtID
|
gptkb:P15848
|
|
gptkbp:bfsParent
|
gptkb:MPS_VI
|
|
gptkbp:bfsLayer
|
6
|