arylsulfatase family member I

Summary
Gene Symbol
  • ARSI
Aliases
  • FLJ16069
  • SPG66
Organism
Homo sapiens (human)
NCBI Gene
340075
HGNC
32521
KEGG Gene ID
hsa:340075
PubChem
340075
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Endoplasmic reticulum
  • Glycoprotein
  • Hydrolase
  • Metal-binding
  • Oxidation
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
Q5FYB1
OrthoDB (Group)
Group level
Eukaryota
Group Name
arylsulfatase i
Functional Category
  • E: Amino acid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K12375
Name
arylsulfatase I/J [EC:3.1.6.-]
References
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 13 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0001284 Areflexia
HP:0001301 Chronic sensorineural polyneuropathy
HP:0001321 Cerebellar hypoplasia
HP:0001762 Talipes equinovarus
HP:0002061 Lower limb spasticity
HP:0002064 Spastic gait
HP:0002079 Hypoplasia of the corpus callosum
HP:0002166 Impaired vibration sensation in the lower limbs
HP:0002355 Difficulty walking
Displaying 1 entry
Disease ID Disease Name
ORPHA:401815
  • autosomal recessive spastic paraplegia type 66

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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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