UniProt | Protein Name |
---|---|
E9PEX6 |
|
A0A024R713 |
|
P09622 |
|
GO Term | Evidence Code | PMID |
---|---|---|
acetyl-CoA biosynthetic process from pyruvate | ||
acetyl-CoA biosynthetic process from pyruvate | ||
acetyl-CoA biosynthetic process from pyruvate | ||
pyruvate metabolic process | ||
2-oxoglutarate metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrion | ||
mitochondrial matrix | ||
mitochondrial matrix | ||
motile cilium | ||
acrosomal matrix |
GO Term | Evidence Code | PMID |
---|---|---|
dihydrolipoyl dehydrogenase activity | ||
dihydrolipoyl dehydrogenase activity | ||
protein binding | ||
pyruvate dehydrogenase (NAD+) activity | ||
2-oxoisovalerate dehydrogenase (acylating) activity |
Gene Ontology |
---|
dihydrolipoyl dehydrogenase activity |
flavin adenine dinucleotide binding |
oxidoreductase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:9269 | maple syrup urine disease |
HPO ID | HPO Term |
---|---|
HP:0001298 | Encephalopathy |
HP:0001332 | Dystonia |
HP:0001399 | Hepatic failure |
HP:0001410 | Decreased liver function |
HP:0001508 | Failure to thrive |
HP:0001638 | Cardiomyopathy |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0001942 | Metabolic acidosis |
HP:0001943 | Hypoglycemia |
HP:0001987 | Hyperammonemia |
Disease ID | Disease Name |
---|---|
OMIM:246900 |
|
ORPHA:2394 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102176387 | CAPHI23782 | ||
103031703 | ASTMX05167 | ||
103118125 | ERIEU10898 | ||
103189342 | CALMI41238 | ||
103226725 | CHLSB09880 | ||
103674705 | URSMA10040 | ||
103732169 | NANGA02059 | ||
103813719 | SERCA06289 | ||
104677414 | RHIRO25835 | ||
105475299 | MACNE00034 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 7, 2025