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Literature summary for 6.3.2.2 extracted from
- An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro (2010), Mol. Genet. Metab., 101, 55-61.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| P462S | non-synonymous polymorphism in the gene encoding the catalytic subunit of glutamate-cysteine ligase. The polymorphism is present only in individuals of African descent and encodes an enzyme with significantly decreased in vitro activity when expressed by either a bacterial or mammalian cell expression system. Overexpression of the P462 wild-type GCLC enzyme results in higher intracellular glutathione concentrations than overexpression of the P462S isoform. Apoptotically stimulated mammalian cells overexpressing the P462S enzyme have increased caspase activation and increased DNA laddering compared to cells overexpressing the wild-type enzyme. The P462S polymorphism is in Hardy-Weinberg disequilibrium, with no individuals homozygous for the P462S polymorphism identified | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
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Release 2023.1 (January 2023)
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