ARSG

Chr 17q24.2

arylsulfatase G

Aliases:: KIAA1001
MANE:: ENST00000621439.5

OMIM: 610008 ↗NCBI: 22901 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ARSG · Q96EG1

v62025-08-01

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

Mean pLDDT

91.8/ 100

Very high

525 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)5%
Low(50–70)3%
Very low(< 50)6%

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
Lysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Usher syndrome, type 4
0.69
neurodegenerative disease
0.41
Usher syndrome type 3
0.37
Usher syndrome
0.34
diabetes mellitus
0.17
Retinal dystrophy
0.14
Limb dystonia
0.09
cervical carcinoma
0.06
renal coloboma syndrome
0.03
Senior-Loken syndrome
0.03

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

Protein function (UniProt)

Arylsulfatase G

Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate (PubMed:18283100, PubMed:29300381). Catalyzes the hydrolysis of the 3-sulfate groups of the N-sulfo-D-glucosamine 3-O-sulfate units of heparin (PubMed:22689975)