Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14

Daniel A. Robertson, David F. Callen, Elizabeth G. Baker, C. Phillip Morris, John J. Hopwood

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34 Citations (Scopus)

Abstract

Glucosamine-6-sulphatase (G6S), a lysosomal enzyme found in all cells, is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of G6S results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Regional mapping by in situ hybridization of a 3H-labelled human G6S cDNA probe to human metaphase chromosomes indicated that the G6S gene is localized to chromosome 12 at q14. The localization of the G6S gene to chromosome 12 was confirmed using the G6S cDNA clone in Southern blot hybridization analysis of DNA from human x mouse hybrid cell lines.

Original languageEnglish
Pages (from-to)175-178
Number of pages4
JournalHuman Genetics
Volume79
Issue number2
DOIs
Publication statusPublished or Issued - 1 Jun 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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