Gene
pygmb
- ID
- ZDB-GENE-040426-1206
- Name
- phosphorylase, glycogen, muscle b
- Symbol
- pygmb Nomenclature History
- Previous Names
-
- zgc:63642
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable glycogen phosphorylase activity and pyridoxal phosphate binding activity. Acts upstream of or within carbohydrate storage and skeletal muscle fiber development. Predicted to be active in cytoplasm. Is expressed in several structures, including eye; heart; immune system; integument; and muscle. Human ortholog(s) of this gene implicated in glycogen storage disease V. Orthologous to human PYGM (glycogen phosphorylase, muscle associated).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Migocka-Patrzałek et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glycogen storage disease V | Alliance | McArdle disease | 232600 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycogen/starch/alpha-glucan phosphorylase | Glycosyl transferase, family 35 | Phosphorylase pyridoxal-phosphate attachment site |
|---|---|---|---|---|
|
UniProtKB:E7EXT3
|
842 |
Interactions and Pathways
No data available
Plasmids
No data available