UniProt | Protein Name |
---|---|
E9PEX6 |
|
A0A024R713 |
|
P09622 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proteolysis | ||
gastrulation | ||
regulation of membrane potential | ||
mitochondrial electron transport, NADH to ubiquinone | ||
sperm capacitation |
GO Term | Evidence Code | PMID |
---|---|---|
pyruvate dehydrogenase complex | ||
mitochondrial matrix | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
flavin adenine dinucleotide binding | ||
2-oxoisovalerate dehydrogenase (acylating) activity | ||
dihydrolipoyl dehydrogenase activity | ||
pyruvate dehydrogenase (NAD+) activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:10763 | hypertension | |
DOID:0014667 | disease of metabolism | |
DOID:0040085 | bacterial sepsis | |
DOID:0050424 | familial adenomatous polyposis | |
DOID:0050453 | lissencephaly | |
DOID:0050571 | congenital disorder of glycosylation type II | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050700 | cardiomyopathy | |
DOID:0050753 | cerebellar ataxia |
HPO ID | HPO Term |
---|---|
HP:0001993 | Ketoacidosis |
HP:0002013 | Vomiting |
HP:0002151 | Increased circulating lactate concentration |
HP:0002240 | Hepatomegaly |
HP:0002480 | Hepatic encephalopathy |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003128 | Lactic acidosis |
HP:0003234 | Decreased circulating carnitine concentration |
HP:0003394 | Muscle spasm |
HP:0003542 | Increased serum pyruvate |
Disease ID | Disease Name |
---|---|
ORPHA:2394 |
|
OMIM:246900 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100994905 | PANPA36979 | ||
463861 | PANTR41163 | ||
100174022 | PONAB33106 | ||
100189862 | PONAB33106 | ||
403978 | CANLF05526 | ||
112908553 | VULVU34363 | ||
123789410 | URSAM28380 | ||
100472325 | AILME18438 | ||
101675639 | MUSPF18998 | ||
101094004 | FELCA02863 |
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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