Gene
phkb
- ID
- ZDB-GENE-110411-149
- Name
- phosphorylase kinase, beta
- Symbol
- phkb Nomenclature History
- Previous Names
-
- si:dkey-96k10.1
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to contribute to phosphorylase kinase activity. Predicted to be involved in protein phosphorylation. Predicted to localize to phosphorylase kinase complex. Human ortholog(s) of this gene implicated in glycogen storage disease IXb. Orthologous to human PHKB (phosphorylase kinase regulatory subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- No data available
- 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 |
---|---|---|---|
glycogen storage disease IXb | Alliance | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive | 261750 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | GH15-like domain | Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain | Phosphorylase kinase alpha/beta subunit | Six-hairpin glycosidase superfamily |
---|---|---|---|---|---|
UniProtKB:A0A8M9PKZ8
|
487 | ||||
UniProtKB:F8W2U7
|
1084 | ||||
UniProtKB:F1Q6F0
|
1087 | ||||
UniProtKB:A0A8M9P9R7
|
490 | ||||
UniProtKB:A0A8M2BDU6
|
1087 |
Interactions and Pathways
No data available
Plasmids
No data available