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 |
---|---|---|
isoamylase complex | ||
secretory granule lumen | ||
sarcoplasmic reticulum | ||
ficolin-1-rich granule lumen |
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:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U |
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 |
---|---|---|---|
115153237 | SALTR00628 | ||
115156796 | SALTR61810 | ||
115169902 | SALTR41359 | ||
115549217 | GADMO58192 | ||
103479203 | POERE11927 | ||
101163765 | ORYLA06378 | ||
100703226 | ORENI29914 | ||
113010983 | ASTCA16973 | ||
115572875 | SPAAU35929 | ||
779381 | Xenbase:XB-GENE-6252447 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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