title: Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.
abstract: A deficiency of N-acetylgalactosamine-4-sulphatase (G4S, gene symbol ARSB), results in the accumulation of undegraded substrate and the lysosomal storage disorder, Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). In situ hybridization using an 3H-labelled human G4S genomic DNA fragment to human metaphase chromosomes localized ARSB to chromosome 5q13-5q14. This location is consistent with, an refines, previous chromosomal assignments based on the expression of human G4S in somatic cell hybrids.
authors.affiliation: Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
authors.forename: T
authors.initials: T
authors.lastname: Litjens
authors.forename: E G
authors.initials: EG
authors.lastname: Baker
authors.forename: K R
authors.initials: KR
authors.lastname: Beckmann
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
mesh_terms: D002803:Chondro-4-Sulfatase / Q000235:genetics*; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009693:Nucleic Acid Hybridization; D013429:Sulfatases / Q000235:genetics*
chemical_list: D013429:Sulfatases; D002803:Chondro-4-Sulfatase