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:230 | lateral sclerosis | |
DOID:231 | motor neuron disease | |
DOID:235 | colonic benign neoplasm | |
DOID:2368 | gangliosidosis | |
DOID:2841 | asthma | |
DOID:285 | hairy cell leukemia | |
DOID:3021 | acute kidney failure | |
DOID:3070 | high grade glioma | |
DOID:3071 | gliosarcoma | |
DOID:308 | early myoclonic encephalopathy |
HPO ID | HPO Term |
---|---|
HP:0003202 | Skeletal muscle atrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003390 | Sensory axonal neuropathy |
HP:0003394 | Muscle spasm |
HP:0003429 | CNS hypomyelination |
HP:0003484 | Upper limb muscle weakness |
HP:0003593 | Infantile onset |
HP:0003701 | Proximal muscle weakness |
HP:0003819 | Death in childhood |
HP:0004343 | Abnormal glycosphingolipid metabolism |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
118300568 | SCOMX24823 | ||
102422819 | MYOLU00254 | ||
117024535 | RHIFE12795 | ||
100225163 | TAEGU31910 | ||
103223154 | CHLSB14131 | ||
108541144 | RHIBE07076 | ||
104662302 | RHIRO17805 | ||
100594598 | NOMLE15090 | ||
114606774 | PODMU10796 | ||
107570862 | SINGR91398 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024