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 |
---|---|---|
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:686 | liver carcinoma | |
DOID:769 | neuroblastoma | |
DOID:7757 | childhood leukemia | |
DOID:799 | varicose veins | |
DOID:824 | periodontitis | |
DOID:850 | lung disease | |
DOID:8527 | monocytic leukemia | |
DOID:8577 | ulcerative colitis | |
DOID:8593 | chronic monocytic leukemia | |
DOID:863 | nervous system disease |
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 |
---|---|---|---|
103226725 | CHLSB09880 | ||
108540480 | RHIBE21764 | ||
104677414 | RHIRO25835 | ||
100582270 | NOMLE07231 | ||
114605034 | PODMU33769 | ||
107575708 | SINGR04867 | ||
106825194 | EQUAS07416 | ||
116838649 | CHEAB14187 | ||
115056698 | ECHNA52517 | ||
115392327 | SALFA27755 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024