UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosaminoglycan metabolic process | ||
chondroitin sulfate catabolic process | ||
neuron cellular homeostasis | ||
ganglioside catabolic process | ||
lysosome organization |
GO Term | Evidence Code | PMID |
---|---|---|
cortical granule | ||
extracellular region | ||
azurophil granule | ||
membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
N-acetyl-beta-D-galactosaminidase activity | ||
acetylglucosaminyltransferase activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:3211 | lysosomal storage disease | |
DOID:3320 | Tay-Sachs disease | |
DOID:3321 | GM2 gangliosidosis | |
DOID:3323 | Sandhoff disease | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:3612 | retinitis | |
DOID:3620 | central nervous system cancer | |
DOID:4752 | multiple system atrophy | |
DOID:4795 | GM2 gangliosidosis, AB variant | |
DOID:4873 | anterior horn cell disease |
HPO ID | HPO Term |
---|---|
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001332 | Dystonia |
HP:0001336 | Myoclonus |
HP:0001337 | Tremor |
HP:0001347 | Hyperreflexia |
HP:0001433 | Hepatosplenomegaly |
HP:0001508 | Failure to thrive |
HP:0001634 | Mitral valve prolapse |
HP:0001640 | Cardiomegaly |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180533 | WB:WBGene00020509 | ||
31808 | FB:FBgn0041629 | ||
38528 | FB:FBgn0041630 | ||
250735 | FB:FBgn0045063 | ||
100178428 | CIOIN07063 | ||
100187142 | CIOIN07062 | ||
103186366 | CALMI34542 | ||
102348190 | LATCH03984 | ||
323613 | ZFIN:ZDB-GENE-030131-2333 | DANRE36168 | |
103025028 | ASTMX12396 |
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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