Gene
gcsha
- ID
- ZDB-GENE-050320-18
- Name
- glycine cleavage system protein H (aminomethyl carrier), a
- Symbol
- gcsha Nomenclature History
- Previous Names
-
- wu:fb14d10
- wu:fw84b08
- zgc:112535
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to be involved in glycine decarboxylation via glycine cleavage system. Predicted to localize to glycine cleavage complex and mitochondrion. Human ortholog(s) of this gene implicated in glycine encephalopathy. Orthologous to human GCSH (glycine cleavage system protein H).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112535 (1 image)
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 |
|---|---|---|---|
| Multiple mitochondrial dysfunctions syndrome 7 | 620423 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR003016 | 2-oxo acid dehydrogenase, lipoyl-binding site |
| Domain | IPR000089 | Biotin/lipoyl attachment |
| Family | IPR002930 | Glycine cleavage system H-protein |
| Family | IPR017453 | Glycine cleavage system H-protein, subgroup |
| Family | IPR033753 | Glycine cleavage system H-protein/Simiate |
| Homologous_superfamily | IPR011053 | Single hybrid motif |
Domain Details Per Protein
| Protein | Length | 2-oxo acid dehydrogenase, lipoyl-binding site | Biotin/lipoyl attachment | Glycine cleavage system H-protein | Glycine cleavage system H-protein/Simiate | Glycine cleavage system H-protein, subgroup | Single hybrid motif |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5BJB5
|
174 |
Interactions and Pathways
No data available
Plasmids
No data available