OMIA:001234-9940 : Reduced glutathione deficiency due to amino-acid transport defect in Ovis aries (sheep)
Categories: Haematopoietic system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal co-dominant
Considered a defect: yes
Key variant known: no
Cross-species summary: Glutathione is a small peptide consisting of just three amino acids: glutamic acid, cystein, and glycine. It is a widely-distributed molecule, serving as a reducing agent in many different metabolic processes. One of its most notable roles is in protecting red blood cells from oxidation and haemolysis. Glutathione normally exists in its reduced sulphydral form (GSH; often called reduced glutathione). Its oxidised form consists of two GSH molecules whose cysteines are joined by a di-sulphide bridge (symbolised GSSG). Unlike most peptides, glutathione is not the product of a gene; instead, it is manufactured from its three constituent amino acids in a two-step process catalysed by gamma-glutamylcysteine synthetase (GCS; which creates a di-peptide of glutamic acid and cysteine) and glutathione synthetase (GSHS; which adds glycine). Oxidation of GSH to GSSG is catalysed by glutathione peroxide (GPX); reduction back to GSH is catalysed by glutathione reductase (GR). In the type of deficiency of reduced glutathione described in this entry, all aspects of glutathione metabolism function normally. But a defect in the transport of cysteine across the erythrocyte membrane results in a deficiency of this vital component of GSH, and hence in a deficiency of GSH.
Species-specific description: This form of reduced glutathione deficiency has been reported in Finn and Awassi sheep (Young, 1983).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Awassi (Sheep) (VBO_0001308),
Finnish Landrace (Sheep) (VBO_0001414).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1983||Agar, N.S., Young, J.D., Board, P.G. :|
|Erythrocyte amino acid and nucleoside transport :271-290, 1983.|
|Agar, N.S., Ellory, J.C., Board, P.G., Tucker, E.M. :|
|Cation transport in red blood cells :291-314, 1983.|
|Board, P.G., Agar, N.S. :|
|Glutathione metabolism in erythrocytes :253-270, 1983.|
|1982||Young, J.D., Tucker, E.M., Kilgour, L. :|
|Genetic control of amino acid transport in sheep erythrocytes Biochemical Genetics 20:723-731, 1982. Pubmed reference: 7138497.|
|1981||Tucker, E.M., Young, J.D., Crowley, C. :|
|Red cell glutathione deficiency. Clinical and biochemical investigations using sheep as an experimental model system British Journal of Haematology 48:403-, 1981. Pubmed reference: 6114741.|
|1980||Tucker, E.M., Evans, N.R.S., Kilgour, L. :|
|Close linkage between the C blood group locus and the locus controlling amino acid transport in sheep erythrocytes Animal Blood Groups and Biochemical Genetics 11:119-125, 1980. Pubmed reference: 7436049.|
|1976||Young, J.D., Ellory, J.C., Tucker, E.M. :|
|Amino acid transport in normal and glutathione-deficient sheep erythrocytes Biochemical Journal 154:43-, 1976. Pubmed reference: 1275912.|
- Created by Frank Nicholas on 06 Sep 2005