UniProt | Protein Name |
---|---|
A0A1B0GTB8 |
|
P23786 |
|
A0A140VK13 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of cold-induced thermogenesis | ||
fatty acid beta-oxidation | ||
carnitine shuttle |
|
|
in utero embryonic development | ||
long-chain fatty acid 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:0002913 | Myoglobinuria |
HP:0002987 | Elbow flexion contracture |
HP:0003077 | Hyperlipidemia |
HP:0003198 | Myopathy |
HP:0003201 | Rhabdomyolysis |
HP:0003215 | Dicarboxylic aciduria |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003259 | Elevated circulating creatinine concentration |
HP:0003326 | Myalgia |
HP:0003394 | Muscle spasm |
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 |
---|---|---|---|
101560512 | OCTDE17295 | ||
101709766 | HETGA17439 | ||
101873302 | MELUD04783 | ||
100017404 | MONDO13148 | ||
100559925 | ANOCA06243 | ||
103670701 | URSMA14864 | ||
114024910 | VOMUR21233 | ||
113889864 | BOBOX07144 | ||
102532414 | VICPA04147 | ||
100956504 | OTOGA09210 |
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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