Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

Tom Litjens, Elizabeth G. Baker, Kerri R. Beckmann, C. Phillip Morris, John J. Hopwood, David F. Callen

Research output: Contribution to journalArticlepeer-review

53 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)67-68
Number of pages2
JournalHuman Genetics
Volume82
Issue number1
DOIs
Publication statusPublished or Issued - 1 Apr 1989
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this