Gene
pygma
- ID
- ZDB-GENE-050522-482
- Name
- phosphorylase, glycogen, muscle A
- Symbol
- pygma Nomenclature History
- Previous Names
-
- im:7150327
- zgc:110706
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have glycogen phosphorylase activity and pyridoxal phosphate binding activity. Predicted to be involved in glycogen catabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in glycogen storage disease V. Is expressed in several structures, including adaxial cell; eye; heart; integument; and musculature system. Orthologous to human PYGM (glycogen phosphorylase, muscle associated).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 15 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150327 (10 images)
- IMAGE:7156459 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Migocka-PatrzaĆek 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:Q503C7
|
842 |
Interactions and Pathways
No data available
Plasmids
No data available