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:0080199 | colorectal carcinoma | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080409 | familial adenomatous polyposis 1 | |
DOID:0080492 | leukocyte adhesion deficiency 2 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 |
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 |
---|---|---|---|
103226725 | CHLSB09880 | ||
108540480 | RHIBE21764 | ||
104677414 | RHIRO25835 | ||
100582270 | NOMLE07231 | ||
114605034 | PODMU33769 | ||
107575708 | SINGR04867 | ||
106825194 | EQUAS07416 | ||
116838649 | CHEAB14187 | ||
115056698 | ECHNA52517 | ||
115392327 | SALFA27755 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024