Gene
gm2a
- ID
- ZDB-GENE-050417-373
- Name
- ganglioside GM2 activator
- Symbol
- gm2a Nomenclature History
- Previous Names
-
- zgc:110188
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable lipid transporter activity. Predicted to be involved in ganglioside catabolic process and lipid transport. Predicted to be active in cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (ganglioside GM2 activator).
- 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
-
- IMAGE:6901861 (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 |
|---|---|---|---|
| GM2 gangliosidosis, AB variant | Alliance | GM2-gangliosidosis, AB variant | 272750 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ganglioside GM2 activator | GM2-AP, lipid-recognition domain superfamily | MD-2-related lipid-recognition domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M2BKE8
|
211 | |||
|
UniProtKB:Q568N7
|
200 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available