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:5076 | mixed glioma | |
DOID:5082 | liver cirrhosis | |
DOID:526 | human immunodeficiency virus infectious disease | |
DOID:557 | kidney disease | |
DOID:5672 | large intestine cancer | |
DOID:5679 | retinal disease | |
DOID:635 | acquired immunodeficiency syndrome | |
DOID:655 | inherited metabolic disorder | |
DOID:713 | HCL-V | |
DOID:7148 | rheumatoid arthritis |
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 |
---|---|---|---|
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