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:13909 | red-green color blindness | |
DOID:13910 | red color blindness | |
DOID:13911 | achromatopsia | |
DOID:14791 | Leber congenital amaurosis | |
DOID:1555 | urticaria | |
DOID:1558 | angioedema | |
DOID:1588 | thrombocytopenia | |
DOID:162 | cancer | |
DOID:1697 | ichthyosis | |
DOID:1699 | obsolete congenital ichthyosiform erythroderma |
HPO ID | HPO Term |
---|---|
HP:0002123 | Generalized myoclonic seizure |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002187 | Intellectual disability, profound |
HP:0002188 | Delayed CNS myelination |
HP:0002380 | Fasciculations |
HP:0002509 | Limb hypertonia |
HP:0002510 | Spastic tetraplegia |
HP:0002977 | Aplasia/Hypoplasia involving the central nervous system |
HP:0003011 | Abnormality of the musculature |
HP:0003477 | Peripheral axonal neuropathy |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
109098404 | CYPCA58415 | ||
103729172 | NANGA21985 | ||
116442178 | CORMO19188 | ||
115609845 | STRHB17005 | ||
108309868 | CEBIM15378 |
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Last updated: August 19, 2024