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:0060224 | atrial fibrillation | |
DOID:0060243 | stuttering | |
DOID:0060350 | adenine phosphoribosyltransferase deficiency | |
DOID:0060597 | atypical chronic myeloid leukemia, BCR-ABL1 negative | |
DOID:0060672 | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0070255 | congenital disorder of glycosylation type IIc | |
DOID:0080154 | short chain acyl-CoA dehydrogenase deficiency |
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 |
---|---|
ORPHA:2394 |
|
OMIM:246900 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115586509 | SPAAU43254 | ||
380588 | Xenbase:XB-GENE-982854 | ||
108711180 | Xenbase:XB-GENE-17341696 | ||
100485480 | Xenbase:XB-GENE-982851 | ||
101942826 | CHRPI21537 | ||
109315711 | CROPO05376 | ||
113436708 | PSETE00990 | ||
100548628 | MELGA00159 | ||
103813719 | SERCA06289 | ||
100078688 | ORNAN05211 |
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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