Genomics. 1995 Dec 10;30(3):617-9.

The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.

Webb GC, Vaska VL, Gali RR, Ford JH, Board PG.

Source

Genetics Department, Queen Elizabeth Hospital, Woodville, South Australia.

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.

PMID:: 8825653; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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Glutathione Synthase

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Cited by 4 PubMed Central articles

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Kinetic properties of missense mutations in patients with glutathione synthetase deficiency. [Biochem J. 2000]
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
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The gene encoding human glutathione synthetase (GSS) maps to the long arm of chr...
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Genomics. 1995 Dec 10 ;30(3):617-9.

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