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:5844 | myocardial infarction | |
DOID:5847 | posterior myocardial infarction | |
DOID:5854 | silent myocardial infarction | |
DOID:6000 | congestive heart failure | |
DOID:612 | primary immunodeficiency disease | |
DOID:6204 | follicular adenoma | |
DOID:657 | adenoma | |
DOID:6612 | leukocyte adhesion deficiency | |
DOID:6713 | cerebrovascular disease | |
DOID:684 | hepatocellular carcinoma |
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 |
---|---|---|---|
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