UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dermatan sulfate catabolic process | ||
single fertilization | ||
myelination | ||
intracellular calcium ion homeostasis | ||
hyaluronan catabolic process |
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:0001653 | Mitral regurgitation |
HP:0001761 | Pes cavus |
HP:0002014 | Diarrhea |
HP:0002015 | Dysphagia |
HP:0002019 | Constipation |
HP:0002028 | Chronic diarrhea |
HP:0002059 | Cerebral atrophy |
HP:0002066 | Gait ataxia |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002071 | Abnormality of extrapyramidal motor function |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102181993 | CAPHI12933 | ||
101111906 | SHEEP06836 | ||
101112162 | SHEEP06837 | ||
100756663 | CRIGR26631 | ||
100756951 | CRIGR17410 | ||
100766960 | CRIGR26631 | ||
15212 | MGI:96074 | MOUSE09988 | |
294673 | RGD:1307607 | RATNO24946 | |
100731613 | CAVPO24087 | ||
101584110 | OCTDE22070 |
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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