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:0007704 | Paroxysmal involuntary eye movements |
HP:0007722 | Retinal pigment epithelial atrophy |
HP:0007754 | Macular dystrophy |
HP:0007772 | Impaired smooth pursuit |
HP:0007814 | Retinal pigment epithelial mottling |
HP:0008002 | Abnormality of macular pigmentation |
HP:0008059 | Aplasia/Hypoplasia of the macula |
HP:0008064 | Ichthyosis |
HP:0010783 | Erythema |
HP:0011003 | High myopia |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
116821636 | CHEAB25005 | ||
109531419 | HIPCM23800 | ||
105295295 | PTEVA04238 | ||
115044550 | ECHNA26585 | ||
115396671 | SALFA31537 | ||
103388604 | CYNSE06518 | ||
105517657 | COLAP30887 | ||
105811768 | PROCO06014 | ||
851087 | SGD:S000004364 | ||
109078047 | CYPCA34318 |
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Last updated: August 19, 2024