Gene
ugp2a
- ID
- ZDB-GENE-090311-46
- Name
- UDP-glucose pyrophosphorylase 2a
- Symbol
- ugp2a Nomenclature History
- Previous Names
-
- si:ch73-233a22.2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have UTP:glucose-1-phosphate uridylyltransferase activity. Predicted to be involved in UDP-glucose metabolic process and glycogen metabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Orthologous to human UGP2 (UDP-glucose pyrophosphorylase 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from Shao et al., 2022
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
---|---|---|---|
developmental and epileptic encephalopathy 83 | Alliance | Developmental and epileptic encephalopathy 83 | 618744 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Nucleotide-diphospho-sugar transferases | UDPGP family | UTP--glucose-1-phosphate uridylyltransferase |
---|---|---|---|---|
UniProtKB:B8JMZ1
|
507 | |||
UniProtKB:A0A8M2B230
|
541 |
Interactions and Pathways
No data available
Plasmids
No data available