UniProt | Protein Name |
---|---|
E9PEX6 |
|
A0A024R713 |
|
P09622 |
|
GO Term | Evidence Code | PMID |
---|---|---|
acetyl-CoA biosynthetic process from pyruvate | ||
branched-chain amino acid catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
acrosomal matrix | ||
motile cilium | ||
acetyltransferase complex | ||
oxoglutarate dehydrogenase complex |
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:12139 | dysthymic disorder | |
DOID:12217 | Lewy body dementia | |
DOID:12309 | urticaria pigmentosa | |
DOID:1240 | leukemia | |
DOID:12451 | sulfhemoglobinemia | |
DOID:12550 | hepatic coma | |
DOID:12705 | Friedreich ataxia | |
DOID:12849 | autistic disorder | |
DOID:12932 | endomyocardial fibrosis | |
DOID:1307 | dementia |
HPO ID | HPO Term |
---|---|
HP:0003593 | Infantile onset |
HP:0003819 | Death in childhood |
HP:0007663 | Reduced visual acuity |
HP:0008344 | Elevated circulating branched chain amino acid concentration |
HP:0010913 | Hyperisoleucinemia |
HP:0011968 | Feeding difficulties |
HP:0012402 | Increased urine alpha-ketoglutarate concentration |
HP:0012758 | Neurodevelopmental delay |
HP:0100724 | Hypercoagulability |
Disease ID | Disease Name |
---|---|
ORPHA:2394 |
|
OMIM:246900 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178387 | WB:WBGene00010794 | ||
103189342 | CALMI41238 | ||
399479 | ZFIN:ZDB-GENE-040120-4 | DANRE27563 | |
103031703 | ASTMX05167 | ||
108275299 | ICTPU06338 | ||
113584051 | ELEEL33661 | ||
115192726 | SALTR30407 | ||
115197019 | SALTR12222 | ||
115550926 | GADMO62139 | ||
100705559 | ORENI66705 |
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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