UniProt | Protein Name |
---|---|
Q99798 |
|
GO Term | Evidence Code | PMID |
---|---|---|
citrate metabolic process | ||
isocitrate metabolic process | ||
response to isolation stress | ||
liver development | ||
generation of precursor metabolites and energy |
|
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
mitochondrial matrix |
|
|
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
4 iron, 4 sulfur cluster binding | ||
3 iron, 4 sulfur cluster binding | ||
aconitate hydratase activity | ||
iron ion binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110462 | autosomal recessive nonsyndromic deafness 101 | |
DOID:0050564 | autosomal dominant nonsyndromic deafness | |
DOID:0050565 | autosomal recessive nonsyndromic deafness | |
DOID:0050566 | X-linked nonsyndromic deafness | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050883 | infantile cerebellar-retinal degeneration | |
DOID:0060192 | Crohn's colitis | |
DOID:0060690 | autosomal dominant auditory neuropathy 1 | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0060891 | Parkinson's disease 19A |
HPO ID | HPO Term |
---|---|
HP:0000648 | Optic atrophy |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001265 | Hyporeflexia |
HP:0001272 | Cerebellar atrophy |
HP:0001284 | Areflexia |
HP:0001508 | Failure to thrive |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002120 | Cerebral cortical atrophy |
Disease ID | Disease Name |
---|---|
OMIM:614559 |
|
OMIM:616289 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
176121 | WB:WBGene00000041 | ||
41326 | FB:FBgn0037862 | ||
44149 | FB:FBgn0010100 | ||
103189232 | CALMI40993 | ||
322670 | ZFIN:ZDB-GENE-030131-1390 | DANRE45736 | |
103029821 | ASTMX07738 | ||
103031515 | ASTMX14322 | ||
108273913 | ICTPU05126 | ||
113574872 | ELEEL17037 | ||
113584853 | ELEEL34038 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024