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:0110475 | autosomal recessive nonsyndromic deafness 1A | |
DOID:0110476 | autosomal recessive nonsyndromic deafness 1B | |
DOID:0110477 | autosomal recessive nonsyndromic deafness 2 | |
DOID:0110478 | autosomal recessive nonsyndromic deafness 20 | |
DOID:0110479 | autosomal recessive nonsyndromic deafness 21 | |
DOID:0110480 | autosomal recessive nonsyndromic deafness 22 | |
DOID:0110481 | autosomal recessive nonsyndromic deafness 23 | |
DOID:0110482 | autosomal recessive nonsyndromic deafness 24 | |
DOID:0110483 | autosomal recessive nonsyndromic deafness 25 | |
DOID:0110484 | autosomal recessive nonsyndromic deafness 26 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000253 | Progressive microcephaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0000486 | Strabismus |
HP:0000505 | Visual impairment |
HP:0000543 | Optic disc pallor |
HP:0000556 | Retinal dystrophy |
HP:0000639 | Nystagmus |
HP:0000642 | Red-green dyschromatopsia |
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