acyl-CoA synthetase family member 3
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid metabolic process | ||
| fatty acid biosynthetic process | ||
| fatty acid biosynthetic process | ||
| long-chain fatty-acyl-CoA biosynthetic process | ||
| malonate catabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm |
|
|
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrial matrix |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| ATP binding | ||
| CoA-ligase activity | ||
| acid-thiol ligase activity | ||
| very long-chain fatty acid-CoA ligase activity |
| Gene Ontology |
|---|
| fatty acid metabolic process |
| medium-chain fatty acid-CoA ligase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111263 | combined malonic and methylmalonic acidemia |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000708 | Atypical behavior |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001298 | Encephalopathy |
| HP:0001332 | Dystonia |
| HP:0001508 | Failure to thrive |
| HP:0001941 | Acidosis |
| Disease ID | Disease Name |
|---|---|
| OMIM:614265 |
|
| ORPHA:289504 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: December 8, 2025