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:8692 | myeloid leukemia | |
DOID:8864 | acute monocytic leukemia | |
DOID:8927 | learning disability | |
DOID:9255 | frontotemporal dementia | |
DOID:9256 | colorectal cancer | |
DOID:9267 | urea cycle disorder | |
DOID:9269 | maple syrup urine disease | |
DOID:93 | language disorder | |
DOID:934 | viral infectious disease | |
DOID:9351 | diabetes mellitus |
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 |
---|---|---|---|
102008070 | CHILA02841 | ||
105719716 | AOTNA21052 | ||
110207017 | PHACI09139 | ||
101050596 | SAIBB02224 | ||
101975557 | ICTTR12156 | ||
101614839 | JACJA04006 | ||
118315460 | SCOMX00343 | ||
117012167 | RHIFE26889 | ||
100230199 | TAEGU08089 | ||
101807810 | FICAL05144 |
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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