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:1826 | epilepsy | |
DOID:1837 | diabetic ketoacidosis | |
DOID:2007 | degeneration of macula and posterior pole | |
DOID:2566 | corneal dystrophy | |
DOID:2734 | keratosis follicularis | |
DOID:2738 | pseudoxanthoma elasticum | |
DOID:2752 | glycogen storage disease II | |
DOID:2786 | cerebellar disease | |
DOID:331 | central nervous system disease | |
DOID:3571 | liver cancer |
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 |
---|---|---|---|
39245 | FB:FBgn0036128 | ||
317841 | FB:FBgn0052072 | ||
619277 | CIOIN02486 | ||
103186183 | CALMI34037 | ||
102364316 | LATCH04543 | ||
393769 | ZFIN:ZDB-GENE-040426-1767 | DANRE11209 | |
335732 | ZFIN:ZDB-GENE-030131-7672 | ||
103035050 | ASTMX11422 | ||
108272628 | ICTPU14393 | ||
113572917 | ELEEL03574 |
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Last updated: August 19, 2024