UniProt | Protein Name |
---|---|
Q9GZR5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid elongation, monounsaturated fatty acid | ||
unsaturated fatty acid biosynthetic process | ||
detection of visible light | ||
very long-chain fatty acid biosynthetic process | ||
fatty acid elongation, saturated fatty acid |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled photoreceptor activity |
|
|
protein binding | ||
fatty acid elongase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0111195 | erythrokeratodermia variabilis et progressiva 1 | |
DOID:10138 | xerophthalmia | |
DOID:10140 | dry eye syndrome | |
DOID:10584 | retinitis pigmentosa | |
DOID:10871 | age related macular degeneration | |
DOID:10873 | Kuhnt-Junius degeneration | |
DOID:11105 | fundus albipunctatus | |
DOID:11155 | hypohidrosis | |
DOID:11156 | anhidrosis | |
DOID:11504 | autonomic neuropathy |
HPO ID | HPO Term |
---|---|
HP:0003577 | Congenital onset |
HP:0003584 | Late onset |
HP:0003596 | Middle age onset |
HP:0003819 | Death in childhood |
HP:0003829 | Typified by incomplete penetrance |
HP:0007256 | Abnormal pyramidal sign |
HP:0007401 | Macular atrophy |
HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
HP:0007543 | Epidermal hyperkeratosis |
HP:0007663 | Reduced visual acuity |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105023511 | ESOLU46997 | ||
106564638 | SALSA02875 | ||
106597646 | SALSA02875 | ||
115187953 | SALTR47403 | ||
115553629 | GADMO02970 | ||
103478339 | POERE11083 | ||
102220842 | XIPMA26089 | ||
100711736 | ORENI06931 | ||
102293633 | HAPBU26764 | ||
113031430 | ASTCA03140 |
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Last updated: August 19, 2024