arylsulfatase G

Summary
Gene Symbol
  • ARSG
Aliases
  • KIAA1001
Organism
Homo sapiens (human)
NCBI Gene
22901
HGNC
24102
KEGG Gene ID
hsa:22901
PubChem
22901
Alliance of Genome Resources
Annotation
Keyword
  • Calcium
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Hydrolase
  • Lysosome
  • Metal-binding
  • Reference proteome
  • Retinitis pigmentosa
  • Signal
  • Usher syndrome
Proteins
Displaying 1 entry
UniProt Protein Name
Q96EG1
  • N-sulfoglucosamine-3-sulfatase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
arylsulfatase
Functional Category
  • E: Amino acid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K12381
Name
arylsulfatase G [EC:3.1.6.-]
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050439 Usher syndrome
DOID:12798 mucopolysaccharidosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000375 Abnormal cochlea morphology
HP:0000407 Sensorineural hearing impairment
HP:0000408 Progressive sensorineural hearing impairment
HP:0000483 Astigmatism
HP:0000512 Abnormal electroretinogram
HP:0000518 Cataract
HP:0000546 Retinal degeneration
HP:0000572 Visual loss
HP:0000575 Scotoma
Displaying all 2 entries
Disease ID Disease Name
OMIM:618144
  • Usher syndrome, type 4
ORPHA:231183
  • Usher syndrome type 3
  • retinitis pigmentosa-deafness syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005434
Gene Name
arylsulfatase G

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024