UniProt | Protein Name |
---|---|
A0A0S2Z3W3 |
|
P06865 |
|
B4DVA7 |
|
H3BP20 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dermatan sulfate catabolic process | ||
myelination | ||
neuromuscular process controlling posture | ||
hyaluronan catabolic process | ||
skeletal system development |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
cytosol | ||
azurophil granule | ||
membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
N-acetyl-beta-D-galactosaminidase activity | ||
acetylglucosaminyltransferase activity | ||
protein binding | ||
protein heterodimerization activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060058 | lymphoma | |
DOID:0060160 | childhood spinal muscular atrophy | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0080490 | mucolipidosis type IV | |
DOID:10003 | sensorineural hearing loss | |
DOID:1059 | intellectual disability | |
DOID:10923 | sickle cell anemia | |
DOID:11832 | visual epilepsy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000618 | Blindness |
HP:0000726 | Dementia |
HP:0000741 | Apathy |
HP:0000980 | Pallor |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001276 | Hypertonia |
HP:0001290 | Generalized hypotonia |
HP:0002267 | Exaggerated startle response |
Disease ID | Disease Name |
---|---|
OMIM:272800 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180533 | WB:WBGene00020509 | ||
31808 | FB:FBgn0041629 | ||
38528 | FB:FBgn0041630 | ||
250735 | FB:FBgn0045063 | ||
550460 | ZFIN:ZDB-GENE-050417-283 | ||
101931517 | CHRPI31108 | ||
109308844 | CROPO15658 | ||
100544348 | MELGA02967 | ||
103816148 | SERCA10168 | ||
100933252 | SARHA14923 |
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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