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: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:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000230 | Gingivitis |
HP:0000252 | Microcephaly |
HP:0000324 | Facial asymmetry |
HP:0000486 | Strabismus |
HP:0000493 | Abnormal foveal morphology |
HP:0000505 | Visual impairment |
HP:0000551 | Color vision defect |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102172444 | CAPHI29818 | ||
100353429 | RABIT02611 | ||
100774858 | CRIGR06812 | ||
83603 | MGI:1933331 | MOUSE61150 | |
315851 | RGD:1305630 | RATNO41181 | |
100720101 | CAVPO03094 | ||
101572820 | OCTDE13264 | ||
101876966 | MELUD01970 | ||
100017828 | MONDO11206 | ||
102446236 | PELSI12501 |
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Last updated: August 19, 2024