| Entry |
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| Name |
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| Type |
Loss of function
|
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| Gene |
GCLC glutamate-cysteine ligase catalytic subunit [KO: K11204]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00668 | Anemia due to disorders of glutathione metabolism |
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| Reference |
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|---|
| Authors |
Beutler E, Gelbart T, Kondo T, Matsunaga AT |
|---|
| Title |
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. |
|---|
| Journal |
Blood 94:2890-4 (1999) |
|---|
| Reference |
|
|---|
| Authors |
Kang YP, Mockabee-Macias A, Jiang C, Falzone A, Prieto-Farigua N, Stone E, Harris IS, DeNicola GM |
|---|
| Title |
Non-canonical Glutamate-Cysteine Ligase Activity Protects against Ferroptosis. |
|---|
| Journal |
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| LinkDB |
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