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:3683 | lung benign neoplasm | |
DOID:3755 | antithrombin III deficiency | |
DOID:3756 | protein C deficiency | |
DOID:3904 | bronchus carcinoma | |
DOID:3905 | lung carcinoma | |
DOID:3910 | lung adenocarcinoma | |
DOID:399 | tuberculosis | |
DOID:4195 | hyperglycemia | |
DOID:4248 | coronary stenosis | |
DOID:4428 | dyslexia |
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 |
---|---|---|---|
102008070 | CHILA02841 | ||
105719716 | AOTNA21052 | ||
110207017 | PHACI09139 | ||
101050596 | SAIBB02224 | ||
101975557 | ICTTR12156 | ||
101614839 | JACJA04006 | ||
118315460 | SCOMX00343 | ||
117012167 | RHIFE26889 | ||
100230199 | TAEGU08089 | ||
101807810 | FICAL05144 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024