cardiolipin synthase 1
| UniProt | Protein Name |
|---|---|
| Q9UJA2 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| cardiolipin biosynthetic process | ||
| cardiolipin biosynthetic process | ||
| cardiolipin biosynthetic process | ||
| phosphatidylglycerol acyl-chain remodeling | ||
| response to thyroxine |
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrial inner membrane | ||
| mitochondrial inner membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| 1-acylglycerol-3-phosphate O-acyltransferase activity | ||
| cardiolipin synthase (CMP-forming) | ||
| cardiolipin synthase (CMP-forming) | ||
| cardiolipin synthase (CMP-forming) | ||
| cardiolipin synthase (CMP-forming) |
| InterPro |
|---|
| CDP-alcohol phosphatidyltransferase, conserved site |
| CDP-alcohol phosphatidyltransferase, transmembrane domain |
| CDP-alcohol phosphatidyltransferase |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070430 | combined oxidative phosphorylation deficiency 57 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000639 | Nystagmus |
| HP:0000710 | Hyperorality |
| HP:0000863 | Central diabetes insipidus |
| HP:0000873 | Diabetes insipidus |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001332 | Dystonia |
| Disease ID | Disease Name |
|---|---|
| OMIM:620167 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 54675 | Xenbase:XB-GENE-979013 | ||
| 66586 | MOUSE35161 | ||
| 366196 | RATNO26269 | ||
| 458087 | PANTR24332 | ||
| 512761 | BOVIN04704 | ||
| 607530 | CANLF09310 | ||
| 100065537 | HORSE21226 | ||
| 100083897 | ORNAN26906 | ||
| 100406450 | CALJA32699 | ||
| 100459367 | PONAB20707 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025