UniProt | Protein Name |
---|---|
P49419 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycine betaine biosynthetic process from choline | ||
choline catabolic process |
|
|
sensory perception of sound |
|
|
cellular aldehyde metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
cytosol | ||
mitochondrial matrix |
|
|
mitochondrion | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
L-aminoadipate-semialdehyde dehydrogenase activity | ||
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity | ||
aldehyde dehydrogenase (NAD+) activity | ||
betaine-aldehyde dehydrogenase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:1040 | chronic lymphocytic leukemia | |
DOID:10534 | stomach cancer | |
DOID:10584 | retinitis pigmentosa | |
DOID:10588 | adrenoleukodystrophy | |
DOID:1059 | intellectual disability | |
DOID:10629 | microphthalmia | |
DOID:10652 | Alzheimer's disease | |
DOID:1067 | open-angle glaucoma | |
DOID:10763 | hypertension | |
DOID:10825 | essential hypertension |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000238 | Hydrocephalus |
HP:0000273 | Facial grimacing |
HP:0000486 | Strabismus |
HP:0000496 | Abnormality of eye movement |
HP:0000711 | Restlessness |
HP:0000737 | Irritability |
HP:0000750 | Delayed speech and language development |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
Disease ID | Disease Name |
---|---|
OMIM:266100 |
|
ORPHA:3006 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
114048349 | VOMUR19282 | ||
100961474 | OTOGA03419 | ||
102018524 | CHILA22037 | ||
110223911 | PHACI00245 | ||
101965063 | ICTTR07570 | ||
101613765 | JACJA21079 | ||
102441975 | MYOLU00075 | ||
117024968 | RHIFE12306 | ||
101806923 | FICAL11691 | ||
100583462 | NOMLE26203 |
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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