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:2451 | protein S deficiency | |
DOID:2452 | thrombophilia | |
DOID:2645 | benign mesothelioma | |
DOID:2786 | cerebellar disease | |
DOID:2848 | obsolete melancholia | |
DOID:299 | adenocarcinoma | |
DOID:3068 | glioblastoma | |
DOID:3070 | high grade glioma | |
DOID:3074 | giant cell glioblastoma | |
DOID:3172 | papillary adenoma |
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 |
---|---|---|---|
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