Entity Details
| Primary name |
GYS2_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P54840 |
| EntryName | GYS2_HUMAN |
| FullName | Glycogen [starch] synthase, liver |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 703 |
| SequenceStatus | complete |
| DateCreated | 1996-10-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR008631 | Glycogen synthase | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 240600 | OMIM | Glycogen storage disease 0 (GSD0) | A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions