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:0000007 | Autosomal recessive inheritance |
HP:0000020 | Urinary incontinence |
HP:0000158 | Macroglossia |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000618 | Blindness |
HP:0000729 | Autistic behavior |
HP:0000739 | Anxiety |
HP:0000802 | Impotence |
HP:0000966 | Hypohidrosis |
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