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:0004373 | Focal dystonia |
HP:0004481 | Progressive macrocephaly |
HP:0007083 | Hyperactive patellar reflex |
HP:0007256 | Abnormal pyramidal sign |
HP:0007272 | Progressive psychomotor deterioration |
HP:0008994 | Proximal muscle weakness in lower limbs |
HP:0009062 | Infantile axial hypotonia |
HP:0010729 | Cherry red spot of the macula |
HP:0010780 | Hyperacusis |
HP:0010829 | Impaired temperature sensation |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108260279 | ICTPU22932 | ||
113573725 | ELEEL00273 | ||
100196605 | SALSA16684 | ||
106568911 | SALSA68113 | ||
115203828 | SALTR78827 | ||
100708717 | ORENI67145 | ||
115592266 | SPAAU33877 | ||
100158266 | Xenbase:XB-GENE-1002400 | ||
100145770 | Xenbase:XB-GENE-1002397 | ||
101951939 | CHRPI03392 |
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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