General Information:

Id: 14,887
Diseases: Ciliopathy
Usher syndrome
Mus musculus
article
Reference: Kowalewski B et al.(2012) Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice Proc Natl Acad Sci U S A 109 [PMID: 22689975]

Interaction Information:

Comment Deficiency of glycosaminoglycan (GAG) degradation causes a subclass of lysosomal storage disorders called mucopolysaccharidoses (MPSs), many of which present with severe neuropathology. The study shows that the lysosomal arylsulfatase G (ARSG) is the long-sought glucosamine-3-O-sulfatase required to complete the degradation of heparan sulfate.
Formal Description
Interaction-ID: 139607

gene/protein

ARSG

increases_activity of

process

heparan sulfate catabolic process

Comment Deficiency of glycosaminoglycan (GAG) degradation causes a subclass of lysosomal storage disorders called mucopolysaccharidoses (MPSs), many of which present with severe neuropathology. The study shows that the lysosomal arylsulfatase G (ARSG) is the long-sought glucosamine-3-O-sulfatase required to complete the degradation of heparan sulfate. ARSG is essential for the catabolism of heparan sulfate, as evidenced by the resulting heparan sulfate storage and MPS disease pathology in Arsg-deficient mice.
Formal Description
Interaction-ID: 139611

gene/protein

ARSG

decreases_quantity of

drug/chemical compound

Heparan sulfate

in lysosomes
Comment The results demonstrate the key role of ARSG in heparan sulfate degradation and strongly suggest that ARSG deficiency represents a unique, as yet unknown form of mucopolysaccharidosis (MPS), which the authors term MPS IIIE.
Formal Description
Interaction-ID: 139612

gene/protein

ARSG

affects_activity of

disease

Mucopolysaccharidosis IIIE