UniProt | Protein Name |
---|---|
A0A1B0GTB8 |
|
P23786 |
|
A0A140VK13 |
|
GO Term | Evidence Code | PMID |
---|---|---|
carnitine metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial inner membrane | ||
mitochondrion | ||
nucleolus | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
carnitine O-palmitoyltransferase activity | ||
acyltransferase activity | ||
protein binding | ||
carnitine O-octanoyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110439 | dilated cardiomyopathy 1P | |
DOID:0110441 | dilated cardiomyopathy 2B | |
DOID:0110442 | dilated cardiomyopathy 1Q | |
DOID:0110443 | dilated cardiomyopathy 1B | |
DOID:0110444 | dilated cardiomyopathy 1X | |
DOID:0110445 | dilated cardiomyopathy 1KK | |
DOID:0110446 | dilated cardiomyopathy 1W | |
DOID:0110447 | dilated cardiomyopathy 1DD | |
DOID:0110448 | dilated cardiomyopathy 1HH | |
DOID:0110449 | dilated cardiomyopathy 1M |
HPO ID | HPO Term |
---|---|
HP:0011675 | Arrhythmia |
HP:0011936 | Decreased plasma total carnitine |
HP:0011964 | Intermittent painful muscle spasms |
HP:0011968 | Feeding difficulties |
HP:0012380 | Reduced tissue carnitine O-palmitoyltransferase 2 activity |
HP:0012443 | Abnormal brain morphology |
HP:0012722 | Heart block |
HP:0100295 | Muscle fiber atrophy |
HP:0100807 | Long fingers |
Disease ID | Disease Name |
---|---|
OMIM:608836 |
|
OMIM:255110 |
|
ORPHA:228308 |
|
OMIM:614212 |
|
ORPHA:228305 |
|
ORPHA:228302 |
|
OMIM:600649 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178025 | WB:WBGene00011122 | ||
38355 | FB:FBgn0035383 | ||
102353513 | LATCH02224 | ||
100005717 | ZFIN:ZDB-GENE-030131-6719 | DANRE43307 | |
125806102 | ASTMX08855 | ||
115158680 | SALTR108808 | ||
115555428 | GADMO07643 | ||
101167863 | ORYLA13397 | ||
100706914 | ORENI43152 | ||
115591759 | SPAAU67857 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024