UniProt | Protein Name |
---|---|
Q06210 |
|
GO Term | Evidence Code | PMID |
---|---|---|
UDP-N-acetylglucosamine biosynthetic process | ||
UDP-N-acetylglucosamine metabolic process | ||
fructose 6-phosphate metabolic process | ||
circadian regulation of gene expression | ||
protein N-linked glycosylation |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
glutamine-fructose-6-phosphate transaminase (isomerizing) activity | ||
carbohydrate derivative binding |
Gene Ontology |
---|
transferase activity |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000218 | High palate |
HP:0000276 | Long face |
HP:0000303 | Mandibular prognathia |
HP:0000467 | Neck muscle weakness |
HP:0000486 | Strabismus |
HP:0000508 | Ptosis |
HP:0000597 | Ophthalmoparesis |
HP:0000689 | Dental malocclusion |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
ORPHA:353327 |
|
OMIM:608931 |
|
OMIM:610542 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
101936574 | CHRPI07606 | |||
102025483 | CHILA07757 | |||
102131011 | MACFA07237 | |||
102175034 | CAPHI02024 | |||
102345618 | LATCH18907 | |||
102443324 | MYOLU07720 | |||
102457021 | PELSI05392 | |||
103023534 | ASTMX17560 | |||
103111924 | ERIEU11908 | |||
103190263 | CALMI43365 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024