Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
33 | ACADL | acyl-CoA dehydrogenase long chain | |
37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
1374 | CPT1A | carnitine palmitoyltransferase 1A | |
1375 | CPT1B | carnitine palmitoyltransferase 1B | |
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
23175 | LPIN1 | lipin 1 | |
56994 | CHPT1 | choline phosphotransferase 1 |
UniProt ID | Protein Name | Source |
---|---|---|
P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
P50416 | Carnitine O-palmitoyltransferase 1, liver isoform |
HPO ID | HPO Term |
---|---|
HP:0001942 | Metabolic acidosis |
HP:0004756 | Ventricular tachycardia |
HP:0001631 | Atrial septal defect |
HP:0002280 | Enlarged cisterna magna |
HP:0001513 | Obesity |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0001657 | Prolonged QT interval |
HP:0011675 | Arrhythmia |
HP:0002045 | Hypothermia |
HP:0000952 | Jaundice |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024