ARSB

Chr 5q14.1

arylsulfatase B

Aliases:: ASB
MANE:: ENST00000264914.10

OMIM: 611542 ↗NCBI: 411 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ARSB · P15848

v62025-08-01

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

Mean pLDDT

93.1/ 100

Very high

533 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)1%
Low(50–70)6%
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)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal
Mucopolysaccharideosis, Gaucher, Fabry
BIALLELIC, autosomal or pseudoautosomal
Mucopolysaccharidosis type VI
BIALLELIC, autosomal or pseudoautosomal

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

mucopolysaccharidosis type 6
0.87
mucopolysaccharidosis
0.51
metachromatic leukodystrophy
0.46
hereditary disease
0.45
Multiple sulfatase deficiency
0.37
mucopolysaccharidosis type 6, rapidly progressing
0.37
mucopolysaccharidosis type 6, slowly progressing
0.37
frozen shoulder
0.29
digestive system neoplasm
0.26
diabetes mellitus
0.25

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

Protein function (UniProt)

Arylsulfatase B

Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity)