UniProt | Protein Name |
---|---|
P04066 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosaminoglycan catabolic process | ||
glycoside catabolic process | ||
glycolipid catabolic process | ||
fucose metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
extracellular region | ||
cytoplasm | ||
lysosomal lumen | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
alpha-L-fucosidase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0040099 | livedoid vasculitis | |
DOID:0050328 | congenital hypothyroidism | |
DOID:0050461 | aspartylglucosaminuria | |
DOID:0050865 | tongue squamous cell carcinoma | |
DOID:0060249 | scoliosis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080522 | thyroid gland anaplastic carcinoma | |
DOID:0111135 | congenital generalized lipodystrophy type 1 | |
DOID:0111136 | congenital generalized lipodystrophy type 2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000158 | Macroglossia |
HP:0000164 | Abnormality of the dentition |
HP:0000179 | Thick lower lip vermilion |
HP:0000240 | Abnormality of skull size |
HP:0000248 | Brachycephaly |
HP:0000280 | Coarse facial features |
HP:0000316 | Hypertelorism |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
Disease ID | Disease Name |
---|---|
OMIM:230000 |
|
ORPHA:349 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
189173 | WB:WBGene00012225 | ||
3772574 | FB:FBgn0285958 | ||
335494 | ZFIN:ZDB-GENE-030131-7434 | DANRE15363 | |
445165 | ZFIN:ZDB-GENE-040801-78 | DANRE15233 | |
103023687 | ASTMX00855 | ||
108257267 | ICTPU19290 | ||
113575085 | ELEEL15211 | ||
105009640 | ESOLU27552 | ||
106570718 | SALSA74826 | ||
115187227 | SALTR52044 |
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