Entity Details

Primary name GCLC
Entity type gene
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Details

PrimaryID2729
RefseqGeneNG_012071
SymbolGCLC
Nameglutamate-cysteine ligase catalytic subunit
Chromosome6
Location6p12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGSH1_HUMAN

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0004357 glutamate-cysteine ligase activity
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0006534 cysteine metabolic process
GO:0006536 glutamate metabolic process
GO:0006750 glutathione biosynthetic process
GO:0006979 response to oxidative stress
GO:0009408 response to heat
GO:0009725 response to hormone
GO:0016595 glutamate binding
GO:0017109 glutamate-cysteine ligase complex
GO:0043066 negative regulation of apoptotic process
GO:0043531 ADP binding
GO:0045454 cell redox homeostasis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0097746 blood vessel diameter maintenance

Diseases

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Disease IDSourceNameDescription
230450 OMIMHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry.