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FLASH GENE
Symbol ARSG contributors: mct/npt - updated : 15-02-2019
HGNC name arylsulfatase G
HGNC id 24102
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a catalytic site
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Asg
    intraspecies homolog to ARSA
    Homologene
    FAMILY
  • sulfatase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • involved in conversion of sulfated steroid precursors to estrogens during pregnancy
  • active arylsulfatase enzyme of the lysosome
  • key role of ARSG in heparan sulfate degradation
  • CDH13, GRM8, ANK2, SLC16A6, ARSG, RIMBP2 and DCLK1 having role in hearing function
  • lysosomal sulfatase that was shown to be responsible for the degradation of 3-O-sulfated N-sulfoglucosamine residues of heparan sulfate glycosaminoglycans
  • potential role of ARSG variants in task-specific dystonia, especially writer's cramp
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • one calcium ion per subunit
    • protein
  • binds specifically to mannose 6-phosphate receptors, corroborating its lysosomal localization
    • cell & other
    REGULATION
    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