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:0060193 | amyotrophic lateral sclerosis type 1 | |
DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
DOID:0060196 | amyotrophic lateral sclerosis type 4 | |
DOID:0060490 | Schimke immuno-osseous dysplasia | |
DOID:0111064 | autosomal recessive distal hereditary motor neuronopathy 1 | |
DOID:0111154 | postural orthostatic tachycardia syndrome | |
DOID:11120 | psychologic dyspareunia | |
DOID:11155 | hypohidrosis | |
DOID:11156 | anhidrosis | |
DOID:11771 | spontaneous ocular nystagmus |
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 |
---|---|---|---|
100013886 | MONDO17725 | ||
114044690 | VOMUR15792 | ||
113879069 | BOBOX36036 | ||
113879210 | BOBOX36038 | ||
102540175 | VICPA04750 | ||
100963595 | OTOGA15242 | ||
101067014 | TAKRU44520 | ||
105723908 | AOTNA06896 | ||
101960876 | ICTTR04434 | ||
101596572 | JACJA02528 |
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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