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Metazoan complexes |
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Details of GCLC gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GCLC | GLCL,GLCLC | P48506 | GSH1_HUMAN | 2729 | ENSG00000001084 | Glutamate--cysteine ligase catalytic subunit | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 230450;606857 | ||||||||
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of erythrocytes, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of the central nervous system, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the spinal cord, Abnormality of the spinocerebellar tracts, All, Anemia, Anemia due to reduced life span of red cells, Autosomal recessive inheritance, Hemolytic anemia, Late-onset spinocerebellar degeneration, Mode of inheritance, Morphological abnormality of the central nervous system, Myopathy, Peripheral neuropathy, Phenotypic abnormality, Polyneuropathy, Spinocerebellar tract degeneration.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Gclc | Gclc | gcs-1 | Sp-Gclc | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| GCLM | GCLC | 0.999999997 | GCLM | GCLC | cpx561 | no | yes | yes | Known |