UniProt | Protein Name |
---|---|
O14521 |
|
A0A0S2Z4H7 |
|
A0A0S2Z4J3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of catecholamine secretion | ||
proton motive force-driven mitochondrial ATP synthesis |
|
|
mitochondrial electron transport, succinate to ubiquinone | ||
cellular response to hypoxia | ||
tricarboxylic acid cycle |
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial inner membrane | ||
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) | ||
mitochondrial envelope |
|
|
mitochondrion |
|
GO Term | Evidence Code | PMID |
---|---|---|
electron transfer activity |
|
|
ubiquinone binding | ||
succinate dehydrogenase (ubiquinone) activity | ||
metal ion binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110459 | dilated cardiomyopathy 1FF | |
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0111253 | neurofibromatosis 1 | |
DOID:0111414 | trichohepatoenteric syndrome | |
DOID:0111415 | trichohepatoenteric syndrome 1 | |
DOID:10003 | sensorineural hearing loss | |
DOID:10017 | multiple endocrine neoplasia type 1 | |
DOID:10021 | duodenum cancer | |
DOID:10154 | small intestine cancer |
HPO ID | HPO Term |
---|---|
HP:0003128 | Lactic acidosis |
HP:0003144 | Increased serum serotonin |
HP:0003198 | Myopathy |
HP:0003202 | Skeletal muscle atrophy |
HP:0003324 | Generalized muscle weakness |
HP:0003334 | Elevated circulating catecholamine level |
HP:0003345 | Elevated urinary norepinephrine level |
HP:0003388 | Easy fatigability |
HP:0003487 | Babinski sign |
HP:0003508 | Proportionate short stature |
Disease ID | Disease Name |
---|---|
ORPHA:276621 |
|
OMIM:606864 |
|
ORPHA:201 |
|
ORPHA:3208 |
|
ORPHA:97286 |
|
OMIM:168000 |
|
OMIM:619167 |
|
ORPHA:29072 |
|
ORPHA:100093 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
116455618 | CORMO12108 | ||
103268018 | CARSF10030 | ||
115616295 | STRHB18252 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024