UniProt | Protein Name |
---|---|
P17050 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycoside catabolic process | ||
oligosaccharide metabolic process | ||
carbohydrate catabolic process | ||
glycolipid catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
protein homodimerization activity | ||
alpha-N-acetylgalactosaminidase activity | ||
alpha-galactosidase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050700 | cardiomyopathy | |
DOID:0050841 | focal hand dystonia | |
DOID:0060262 | gallbladder disease | |
DOID:0060357 | chylomicron retention disease | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0110735 | neurodegeneration with brain iron accumulation 2a | |
DOID:0112318 | Schindler disease type 1 | |
DOID:0112319 | Kanzaki disease |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000179 | Thick lower lip vermilion |
HP:0000214 | Lip telangiectasia |
HP:0000280 | Coarse facial features |
HP:0000360 | Tinnitus |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000486 | Strabismus |
HP:0000503 | Tortuosity of conjunctival vessels |
HP:0000518 | Cataract |
Disease ID | Disease Name |
---|---|
ORPHA:79281 |
|
OMIM:609241 |
|
ORPHA:79279 |
|
OMIM:609242 |
|
ORPHA:79280 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179660 | WB:WBGene00011095 | ||
34355 | FB:FBgn0032192 | ||
36829 | FB:FBgn0034117 | ||
100182270 | CIOIN12149 | ||
102361487 | LATCH02659 | ||
560778 | ZFIN:ZDB-GENE-051113-256 | DANRE35229 | |
103026015 | ASTMX15173 | ||
113578116 | ELEEL21295 | ||
106605016 | SALSA30613 | ||
115174693 | SALTR53710 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024