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:686 | liver carcinoma | |
DOID:769 | neuroblastoma | |
DOID:7757 | childhood leukemia | |
DOID:799 | varicose veins | |
DOID:824 | periodontitis | |
DOID:850 | lung disease | |
DOID:8527 | monocytic leukemia | |
DOID:8577 | ulcerative colitis | |
DOID:8593 | chronic monocytic leukemia | |
DOID:863 | nervous system disease |
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 |
---|---|---|---|
105815193 | PROCO05932 | ||
850527 | SGD:S000001876 | ||
109079692 | CYPCA138703 | ||
103732169 | NANGA02059 | ||
116442966 | CORMO19921 | ||
115604840 | STRHB21531 |
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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