HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARSK
arylsulfatase family member K
Chromosome 5 Β· 5q15
NCBI Gene: 153642Ensembl: ENSG00000164291.18HGNC: HGNC:25239UniProt: Q6UWY0
20PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
arylsulfatase activityglucuronate-2-sulfatase activityextracellular regionlysosomemucopolysaccharidosis, type 10neurodegenerative diseaseretinitis pigmentosaX-linked retinal dysplasia
✦AI Summary

ARSK (arylsulfatase family member K) is a lysosomal sulfatase that catalyzes hydrolysis of sulfate esters in glycosaminoglycans 1. Specifically, ARSK hydrolyzes the 2-sulfate groups of 2-O-sulfo-D-glucuronate residues in chondroitin sulfate, heparin, and heparitin sulfate, acting selectively on 2-sulfoglucuronate while lacking activity against 2-sulfoiduronate 23. The enzyme functions as a 68-kDa glycoprotein with an acidic pH optimum (~4.6) and localizes to lysosomes via mannose 6-phosphate receptors 1. Biallelic ARSK loss-of-function variants cause mucopolysaccharidosis type 10 (MPS10), a lysosomal storage disorder characterized by progressive hip joint abnormalities, coarse facial features, genu valgum, and dysostosis multiplex, typically presenting around age 9.5 years without hepatosplenomegaly or cognitive impairment 45. Patients show variable dermatan sulfate excretion, and metaphyseal striation of long bones serves as a diagnostic clue 45. Beyond skeletal disease, ARSK shows cytoprotective functions; ARSK overexpression attenuates cigarette smoke-induced airway epithelial senescence via parkin-mediated mitophagy regulation, suggesting therapeutic potential for COPD 6. ARSK is recognized among carbohydrate-linked lysosomal storage diseases associated with cardiac manifestations 7.

Sources cited
1
ARSK is a lysosomal sulfatase with desulfation activity; characterization as 68-kDa glycoprotein with lysosomal localization
PMID: 23986440
2
ARSK catalyzes hydrolysis of 2-sulfate groups in chondroitin sulfate, heparin, and heparitin sulfate; selective for 2-sulfoglucuronate
PMID: 28055182
3
ARSK removes 2-O-sulfate from 2-sulfoglucuronate; ARSK deficiency causes MPS10 with skeletal phenotype and variable dermatan sulfate excretion
PMID: 34916232
4
ARSK-related MPS10 presents with progressive hip dysplasia, coarse features, and normal intelligence; median age at presentation 9.5 years
PMID: 40742107
5
ARSK-related MPS10 characterized by metaphyseal striation and progressive hip dysplasia; vertebral involvement may regress
PMID: 38634625
6
ARSK overexpression attenuates airway epithelial senescence via parkin-mediated mitophagy in COPD model
PMID: 40763656
7
ARSK is among carbohydrate-linked lysosomal storage diseases with cardiac manifestations
PMID: 37239976
Disease Associationsβ“˜21
mucopolysaccharidosis, type 10Open Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
retinitis pigmentosaOpen Targets
0.11Weak
X-linked retinal dysplasiaOpen Targets
0.10Suggestive
age-related macular degenerationOpen Targets
0.09Suggestive
Progressive cone dystrophyOpen Targets
0.09Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.08Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.08Suggestive
Stargardt diseaseOpen Targets
0.08Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.08Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.08Suggestive
age related macular degeneration 11Open Targets
0.07Suggestive
age related macular degeneration 2Open Targets
0.07Suggestive
age related macular degeneration 4Open Targets
0.07Suggestive
age related macular degeneration 6Open Targets
0.07Suggestive
age related macular degeneration 7Open Targets
0.07Suggestive
coloboma of maculaOpen Targets
0.06Suggestive
Familial drusenOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.06Suggestive
Stargardt disease 4Open Targets
0.06Suggestive
Mucopolysaccharidosis 10UniProt
Pathogenic Variants3
NM_198150.3(ARSK):c.1251C>G (p.Tyr417Ter)Pathogenic
Mucopolysaccharidosis, type 10
β˜†β˜†β˜†β˜†2025β†’ Residue 417
NM_198150.3(ARSK):c.250C>T (p.Arg84Cys)Pathogenic
Mucopolysaccharidosis, type 10
β˜†β˜†β˜†β˜†2022β†’ Residue 84
NM_198150.3(ARSK):c.560T>A (p.Leu187Ter)Pathogenic
Mucopolysaccharidosis, type 10
β˜†β˜†β˜†β˜†2022β†’ Residue 187
View on ClinVar β†—
Related Genes
SUMF1Protein interaction95%ARSBProtein interaction83%ARSGProtein interaction83%ARSJProtein interaction78%ARSIProtein interaction76%ARSHProtein interaction73%
Tissue Expression6 tissues
Ovary
100%
Heart
100%
Liver
91%
Brain
88%
Lung
73%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
ARSKSUMF1ARSBARSGARSJARSIARSH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6UWY0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.56–0.95]
RankingsWhere ARSK stands among ~20K protein-coding genes
  • #14,106of 20,598
    Most Researched20
  • #4,149of 5,498
    Most Pathogenic Variants3
  • #8,951of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedARSK
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
1.00
2
Arylsulfatase K attenuates airway epithelial cell senescence in COPD by regulating parkin-mediated mitophagy.
PMID: 40763656
Redox Biol Β· 2025
0.90
3
ARSK-Related Mucopolysaccharidosis Type 10.
PMID: 40742107
Am J Med Genet A Β· 2025
0.80
4
Arylsulfatase K, a novel lysosomal sulfatase.
PMID: 23986440
J Biol Chem Β· 2013
0.70
5
Further characterization of ARSK-related mucopolysaccharidosis type 10.
PMID: 38634625
Am J Med Genet A Β· 2024
0.60