ARSB

Chr 5AR

arylsulfatase B

Also known as: ASB, G4S, MPS6

NCBI Gene: 411 ENSG00000113273 UniProt: P15848 OMIM: 611542

The arylsulfatase B homodimer hydrolyzes sulfate groups from N-acetyl-D-galactosamine, chondroitin sulfate, and dermatan sulfate within lysosomes. Mutations cause mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), an autosomal recessive lysosomal storage disorder resulting from arylsulfatase B deficiency. The pathogenic mechanism involves dominant-negative effects from mutant protein.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mucopolysaccharidosis type VI (Maroteaux-Lamy)MIM #253200

UniProtMultiple sulfatase deficiency

Clinical highlights

Gene-disease validity (ClinGen)

mucopolysaccharidosis type 6 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.06

LOEUF

LOF

Mechanism· G2P