UniProt | Protein Name |
---|---|
Q9GZR5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid elongation, polyunsaturated fatty acid | ||
fatty acid biosynthetic process |
|
|
sphingolipid biosynthetic process | ||
long-chain fatty-acyl-CoA biosynthetic process |
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:13912 | acquired color blindness | |
DOID:1432 | blindness | |
DOID:0050467 | erythrokeratodermia variabilis | |
DOID:0050534 | congenital stationary night blindness | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050753 | cerebellar ataxia | |
DOID:1441 | autosomal dominant cerebellar ataxia | |
DOID:14501 | Sjogren-Larsson syndrome | |
DOID:0050817 | Stargardt disease |
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 |
---|---|---|---|
100225997 | TAEGU21128 | ||
103239978 | CHLSB03545 | ||
108512609 | RHIBE37569 | ||
104682056 | RHIRO39289 | ||
100596130 | NOMLE15307 | ||
113169048 | ANATE08598 | ||
114593897 | PODMU17799 | ||
107559048 | SINGR62186 | ||
111589079 | AMPOC02489 | ||
106842949 | EQUAS01465 |
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Last updated: August 19, 2024