ARSK

Chr 5q15

arylsulfatase family member K

Aliases:: DKFZp313G1735, TSULF
MANE:: ENST00000380009.9

OMIM: 610011 ↗NCBI: 153642 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ARSK · Q6UWY0

v62025-08-01

Predicted Aligned Error matrix for ARSK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.2/ 100

Very high

536 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)4%
Low(50–70)5%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mucopolysaccharidosis, type 10
0.68
neurodegenerative disease
0.33
retinitis pigmentosa
0.12
Progressive cone dystrophy
0.11
Cone rod dystrophy
0.09
Oguchi disease
0.08
Familial drusen
0.08
adult-onset foveomacular vitelliform dystrophy
0.08
Familial exudative vitreoretinopathy
0.08
Leber congenital amaurosis
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Arylsulfatase K

Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate (PubMed:23986440). Catalyzes the hydrolysis of the 2-sulfate groups of the 2-O-sulfo-D-glucuronate residues of chondroitin sulfate, heparin and heparitin sulfate (PubMed:28055182, PubMed:34916232). Acts selectively on 2-sulfoglucuronate and lacks activity against 2-sulfoiduronate (PubMed:28055182)