Gene
gclc
- ID
- ZDB-GENE-030131-5056
- Name
- glutamate-cysteine ligase, catalytic subunit
- Symbol
- gclc Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have several functions, including anion binding activity; glutamate-cysteine ligase activity; and magnesium ion binding activity. Predicted to be involved in several processes, including alpha-amino acid metabolic process; cell redox homeostasis; and glutathione biosynthetic process. Predicted to localize to glutamate-cysteine ligase complex. Human ortholog(s) of this gene implicated in cystic fibrosis; glutamate-cysteine ligase deficiency; hemolytic anemia; and myocardial infarction. Is expressed in several structures, including alar plate midbrain region; gut; intermediate cell mass of mesoderm; midbrain; and sensory system. Orthologous to human GCLC (glutamate-cysteine ligase catalytic subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 29 figures from 17 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb1049 (8 images)
- IMAGE:7153748 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glutamate-cysteine ligase deficiency | Alliance | Anemia, congenital, nonspherocytic hemolytic, 7 | 230450 |
| {Myocardial infarction, susceptibility to} | 608446 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glutamate-cysteine ligase catalytic subunit | Glutamine synthetase/guanido kinase, catalytic domain |
|---|---|---|---|
|
UniProtKB:Q6NV35
|
631 |
Interactions and Pathways
No data available
Plasmids
No data available