ARSB Gene: Arylsulfatase B
Genetic and functional insights into ARSB, associated with Mucopolysaccharidosis type VI and potential roles in cancer and inflammation.
Gene Information Card
| Symbol | ARSB |
|---|---|
| Full Name | Arylsulfatase B |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 411 ncbi.nlm.nih.gov/gene/411 |
| Ensembl ID | ENSG00000113273 |
| UniProt ID | P15848 |
| OMIM ID | 253200 |
| HGNC ID | 714 |
| Aliases | ASB, G4S, MPS6, N-acetylgalactosamine-4-sulfatase |
Description
The ARSB gene encodes arylsulfatase B, a lysosomal enzyme that catalyzes the hydrolysis of sulfate groups from glycosaminoglycans such as dermatan sulfate and chondroitin sulfate. Deficiency of this enzyme leads to the accumulation of these substrates, causing Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ARSB is also implicated in cancer progression and inflammatory pathways through its role in heparan sulfate proteoglycan remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | Loss-of-function mutations in ARSB lead to deficient arylsulfatase B activity, causing lysosomal accumulation of dermatan sulfate and chondroitin sulfate, resulting in progressive multisystemic disease. | ClinVar, OMIM |
| Colorectal cancer | Reduced ARSB expression is associated with altered sulfation of glycosaminoglycans, potentially affecting cell adhesion, migration, and tumor microenvironment. | NCBI Gene, COSMIC |
| Osteoarthritis | Dysregulation of ARSB-mediated sulfation in cartilage may contribute to extracellular matrix degradation and joint pathology. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.5 | Low |
| Brain | 3.2 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| A549 | 8.2 | Lung adenocarcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.962T>C (p.Leu321Pro) | Missense | Common in MPS VI | Loss of enzymatic activity |
| c.1143delC (p.Thr382Profs*13) | Frameshift | Rare | Null allele, complete loss of function |
| c.1213C>T (p.Arg405Trp) | Missense | Reported | Reduced catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic ARSB mutations result in loss of arylsulfatase B enzymatic activity, leading to lysosomal storage disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARSB.
Dominant Negative (DN)
No dominant-negative effects have been described; ARSB deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • arylsulfatase activity | • lysosome |
| • glycosaminoglycan catabolic process | • sulfur compound metabolic process |
| • extracellular matrix organization |
Pathways
• Glycosaminoglycan degradation (KEGG: hsa00531)
• Lysosome (KEGG: hsa04142)
• Metabolism of sulfated glycosaminoglycans (Reactome: R-HSA-1638091)
Protein Summary
Arylsulfatase B is a 533-amino-acid lysosomal enzyme that removes 4-sulfate groups from N-acetylgalactosamine residues in dermatan sulfate and chondroitin sulfate. It is synthesized as a precursor and processed to a mature form. The enzyme requires post-translational modification to form a formylglycine residue essential for catalytic activity. Deficiency leads to MPS VI.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSB Knockout HEK293 Cell Line | EDJ-KQ17901 | Human | 411 | Details Get a Quote |
| ARSB Knockout A-549 Cell Line | EDJ-KQ24149 | Human | 411 | Details Get a Quote |
| ARSB Knockout HCT 116 Cell Line | EDJ-KQ24150 | Human | 411 | Details Get a Quote |
| ARSB Knockout HeLa Cell Line | EDJ-KQ24151 | Human | 411 | Details Get a Quote |
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