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:0014667 | disease of metabolism | |
DOID:0050440 | familial partial lipodystrophy | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050700 | cardiomyopathy | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0060318 | acute promyelocytic leukemia | |
DOID:0060689 | atrichia with papular lesions | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000219 | Thin upper lip vermilion |
HP:0000233 | Thin vermilion border |
HP:0000272 | Malar flattening |
HP:0000293 | Full cheeks |
HP:0000455 | Broad nasal tip |
HP:0000490 | Deeply set eye |
HP:0001256 | Intellectual disability, mild |
HP:0001324 | Muscle weakness |
HP:0001395 | Hepatic fibrosis |
Disease ID | Disease Name |
---|---|
OMIM:232400 |
|
ORPHA:366 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
175091 | WB:WBGene00011050 | ||
37435 | FB:FBgn0034618 | ||
103174627 | CALMI05699 | ||
102354072 | LATCH10766 | ||
567798 | ZFIN:ZDB-GENE-071004-6 | DANRE29999 | |
553352 | ZFIN:ZDB-GENE-050309-54 | ||
113588063 | ELEEL01332 | ||
106568905 | SALSA70439 | ||
106599117 | SALSA19678 | ||
115153237 | SALTR00628 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024