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FLASH GENE
Symbol ARSG contributors: mct/npt - updated : 15-02-2019
HGNC name arylsulfatase G
HGNC id 24102
ASSOCIATED DISORDERS
corresponding disease(s) USH4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
ARSG deficiency represents likely a unique, as yet unknown form of MPS, MPS3E
Susceptibility
Variant & Polymorphism
Candidate gene qualified for enzyme replacement therapy
Marker
Therapy target
ANIMAL & CELL MODELS
  • 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