ARSB

ARSB (arylsulfatase B; N-acetylgalactosamine-4-sulfatase) is a lysosomal enzyme that removes 4-sulfate groups from N-acetylgalactosamine residues during degradation of chondroitin sulfate and dermatan sulfate. A calcium-containing active site and a catalytic formylglycine residue support sulfate-ester hydrolysis. ARSB matures through the secretory pathway and reaches lysosomes through mannose-6-phosphate-dependent delivery. Its effects on sulfated glycans can influence extracellular matrix properties and cell behavior. Deficient ARSB activity causes mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

• lysosomal_substrate_accumulation via Maroteaux-Lamy syndrome
• mps_gag_storage via Mucopolysaccharidosis