Gene
alg14
- ID
- ZDB-GENE-041010-195
- Name
- ALG14 UDP-N-acetylglucosaminyltransferase subunit
- Symbol
- alg14 Nomenclature History
- Previous Names
-
- zgc:101623 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to contribute to N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity. Predicted to be involved in dolichol-linked oligosaccharide biosynthetic process. Predicted to localize to UDP-N-acetylglucosamine transferase complex. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 15. Orthologous to human ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit).
- 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:101623 (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 |
|---|---|---|---|
| congenital myasthenic syndrome 15 | Alliance | ?Myasthenic syndrome, congenital, 15, without tubular aggregates | 616227 |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 619031 | ||
| Myopathy, epilepsy, and progressive cerebral atrophy | 619036 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR013969 | Oligosaccharide biosynthesis protein Alg14-like |
Domain Details Per Protein
| Protein | Length | Oligosaccharide biosynthesis protein Alg14-like |
|---|---|---|
|
UniProtKB:Q5XJS2
|
219 |
Interactions and Pathways
No data available
Plasmids
No data available