Symbol
| ARSG
| contributors: mct/npt - updated : 15-02-2019
|
HGNC name
| arylsulfatase G
|
HGNC id
| 24102
|
corresponding disease(s)
|
USH4
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
ARSG deficiency represents likely a unique, as yet unknown form of MPS, MPS3E | |
Variant & Polymorphism
|
| |
Candidate gene
| qualified for enzyme replacement therapy |
Marker
Therapy target
| | |
| deficiency of ARSG leads to a new type of mucopolysaccharidosis, as described in a mouse model | |
Arsg KO mice share common neuropathological findings with other Sanfilippo syndrome models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding |