CHAC2

Chr 2

ChaC glutathione specific gamma-glutamylcyclotransferase 2

Also known as: GCG1

NCBI Gene: 494143 ENSG00000143942 UniProt: Q8WUX2

The gamma-glutamyl cyclotransferase CHAC2 catalyzes the cleavage of glutathione into 5-oxo-L-proline and cysteinyl-glycine, and is upregulated during endoplasmic reticulum stress to promote apoptosis through glutathione depletion. Mutations cause autosomal recessive early infantile epileptic encephalopathy, characterized by severe seizures and developmental delays beginning in infancy. This gene is highly intolerant to loss-of-function variants, suggesting that complete loss of function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.84

LOEUF

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Mechanism

Some data sources returned errors (1)