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:0110043 | Alzheimer's disease 10 | |
DOID:0110044 | Alzheimer's disease 11 | |
DOID:0110045 | Alzheimer's disease 12 | |
DOID:0110046 | Alzheimer's disease 13 | |
DOID:0110047 | Alzheimer's disease 14 | |
DOID:0110048 | Alzheimer's disease 15 | |
DOID:0110892 | inflammatory bowel disease 1 | |
DOID:0110912 | leukocyte adhesion deficiency 3 | |
DOID:0111044 | gray platelet syndrome | |
DOID:0111049 | platelet-type bleeding disorder 17 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000708 | Atypical behavior |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
Disease ID | Disease Name |
---|---|
ORPHA:2394 |
|
OMIM:246900 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115586509 | SPAAU43254 | ||
380588 | Xenbase:XB-GENE-982854 | ||
108711180 | Xenbase:XB-GENE-17341696 | ||
100485480 | Xenbase:XB-GENE-982851 | ||
101942826 | CHRPI21537 | ||
109315711 | CROPO05376 | ||
113436708 | PSETE00990 | ||
100548628 | MELGA00159 | ||
103813719 | SERCA06289 | ||
100078688 | ORNAN05211 |
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Last updated: August 19, 2024