title: The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.
abstract: Two forms of glutathione synthetase deficiency have been described. While one form is mild, causing hemolytic anemia, the other more severe form causes 5-oxo-prolinuria with secondary neurological involvement. Despite the existence of two deficiency phenotypes, Southern blots hybridized with a glutathione synthetase cDNA suggest that there is a single glutathione synthetase gene in the human genome. Analysis of somatic cell hybrids showed the human glutathione synthetase gene (GSS) to be located on chromosome 20, and this assignment has been refined to subband 20q11.2 using in situ hybridization.
authors.affiliation: Genetics Department, Queen Elizabeth Hospital, Woodville, South Australia.
authors.forename: G C
authors.initials: GC
authors.lastname: Webb
authors.forename: V L
authors.initials: VL
authors.lastname: Vaska
authors.forename: R R
authors.initials: RR
authors.lastname: Gali
authors.forename: J H
authors.initials: JH
authors.lastname: Ford
authors.forename: P G
authors.initials: PG
authors.lastname: Board
mesh_terms: D002871:Chromosome Banding; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005981:Glutathione Synthase / Q000235:genetics*; D006801:Humans
chemical_list: D005981:Glutathione Synthase