UniProt | Protein Name |
---|---|
Q96PE7 |
|
GO Term | Evidence Code | PMID |
---|---|---|
short-chain fatty acid catabolic process |
|
|
L-methylmalonyl-CoA metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrion | ||
mitochondrial matrix |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
metal ion binding | ||
methylmalonyl-CoA epimerase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:14749 | methylmalonic acidemia |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001257 | Spasticity |
HP:0001270 | Motor delay |
HP:0001508 | Failure to thrive |
HP:0001942 | Metabolic acidosis |
HP:0001944 | Dehydration |
HP:0002020 | Gastroesophageal reflux |
HP:0002160 | Hyperhomocystinemia |
HP:0002919 | Ketonuria |
HP:0003593 | Infantile onset |
Disease ID | Disease Name |
---|---|
OMIM:251120 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
115202993 | SALTR77298 | |||
115558673 | GADMO12167 | |||
115580732 | SPAAU24556 | |||
115613000 | STRHB23325 | |||
116822293 | CHEAB24695 | |||
118302078 | SCOMX25794 | |||
118890768 | BALMU29036 | |||
122137961 | CYPCA11100 | |||
122221707 | PANLE19476 | |||
129030270 | 9600_0:000a55 |
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GlyCosmos Portal v4.1.0
Last updated: December 9, 2024