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 |
---|---|---|---|---|
115200115 | SALTR22879 | |||
115397999 | SALFA06681 | |||
115545397 | GADMO52473 | |||
115581277 | SPAAU13257 | |||
115618382 | STRHB19566 | |||
116435508 | CORMO13112 | |||
116828403 | CHEAB17878 | |||
117033189 | RHIFE24953 | |||
118905829 | BALMU05051 | |||
122138274 | CYPCA75181 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024