UniProt | Protein Name |
---|---|
A0A0S2A4E4 |
|
P35573 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycogen catabolic process | ||
response to glucocorticoid | ||
response to nutrient | ||
glycogen biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
4-alpha-glucanotransferase activity | ||
beta-maltose 4-alpha-glucanotransferase activity | ||
glycogen debranching enzyme activity | ||
protein binding | ||
amylo-alpha-1,6-glucosidase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:1029 | familial periodic paralysis | |
DOID:10718 | giardiasis | |
DOID:1074 | kidney failure | |
DOID:11054 | urinary bladder cancer | |
DOID:1168 | familial hyperlipidemia | |
DOID:11712 | lipoatrophic diabetes mellitus | |
DOID:11719 | oculopharyngeal muscular dystrophy | |
DOID:11720 | distal myopathy | |
DOID:11723 | Duchenne muscular dystrophy | |
DOID:11724 | limb-girdle muscular dystrophy |
HPO ID | HPO Term |
---|---|
HP:0003693 | Distal amyotrophy |
HP:0004322 | Short stature |
HP:0005280 | Depressed nasal bridge |
HP:0011800 | Midface retrusion |
Disease ID | Disease Name |
---|---|
OMIM:232400 |
|
ORPHA:366 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103267113 | CARSF04719 | ||
115611994 | STRHB10995 | ||
108317256 | CEBIM13292 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024