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 |
---|---|---|
nucleus | ||
mitochondrion | ||
mitochondrion | ||
mitochondrion | ||
mitochondrion |
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 |
nucleotide 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:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000708 | Atypical behavior |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:246900 |
|
ORPHA:2394 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
1738 | Xenbase:XB-GENE-982851 | ||
13382 | Xenbase:XB-GENE-982851 | MOUSE08536 | |
298942 | Xenbase:XB-GENE-982851 | RATNO35450 | |
397129 | PIGXX36443 | ||
399479 | DANRE27563 | ||
403978 | CANLF05526 | ||
463861 | PANTR41163 | ||
533910 | BOVIN27962 | ||
700494 | MACMU32777 | ||
100050920 | HORSE33518 |
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