GO Term | Evidence Code | PMID |
---|---|---|
fatty acid metabolic process | ||
malonate catabolic process | ||
fatty acid biosynthetic process | ||
long-chain fatty-acyl-CoA biosynthetic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial matrix |
|
|
mitochondrion | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
very long-chain fatty acid-CoA ligase activity | ||
acid-thiol ligase activity | ||
malonyl-CoA synthetase activity | ||
ATP binding | ||
protein binding |
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 |
---|---|
ORPHA:289504 |
|
OMIM:614265 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
122208302 | PANLE29477 | ||
118885830 | BALMU17445 | ||
100665435 | LOXAF06265 | ||
100051639 | HORSE30093 | ||
509209 | BOVIN10316 | ||
102169989 | CAPHI08371 | ||
100764604 | CRIGR00246 | ||
257633 | MGI:2182591 | MOUSE59124 | |
498962 | RGD:1586037 | RATNO14515 | |
100729577 | CAVPO24962 |
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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