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:0110565 | autosomal dominant nonsyndromic deafness 3B | |
DOID:0110566 | autosomal dominant nonsyndromic deafness 40 | |
DOID:0110567 | autosomal dominant nonsyndromic deafness 41 | |
DOID:0110568 | autosomal dominant nonsyndromic deafness 43 | |
DOID:0110569 | autosomal dominant nonsyndromic deafness 44 | |
DOID:0110570 | autosomal dominant nonsyndromic deafness 47 | |
DOID:0110571 | autosomal dominant nonsyndromic deafness 48 | |
DOID:0110572 | autosomal dominant nonsyndromic deafness 49 | |
DOID:0110573 | autosomal dominant nonsyndromic deafness 4A | |
DOID:0110574 | autosomal dominant nonsyndromic deafness 4B |
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 |
---|---|---|---|
113152505 | ANATE29265 | ||
114605482 | PODMU34823 | ||
107554054 | SINGR66793 | ||
107584097 | SINGR13730 | ||
106845929 | EQUAS27881 | ||
116828855 | CHEAB07160 | ||
105298045 | PTEVA15043 | ||
115047889 | ECHNA49812 | ||
115059771 | ECHNA45599 | ||
115392963 | SALFA41408 |
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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