|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:medium-chain_acyl-CoA_dehydrogenase_deficiency
|
|
gptkbp:biologicalProcess
|
lipid metabolism
acyl-CoA dehydrogenase activity
|
|
gptkbp:chromosomeArm
|
p
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodes
|
medium-chain acyl-CoA dehydrogenase
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000117054
34
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
liver
|
|
gptkbp:fullName
|
acyl-CoA dehydrogenase medium chain
|
|
gptkbp:function
|
fatty acid beta-oxidation
|
|
gptkbp:HGNC_ID
|
93
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACADM gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
421 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p31.1
1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:hypoglycemia
sudden infant death syndrome risk
|
|
gptkbp:OMIM
|
607008
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Acadm
|
|
gptkbp:pathway
|
energy metabolism
fatty acid degradation
|
|
gptkbp:proteinLocation
|
mitochondrial matrix
|
|
gptkbp:UniProtID
|
P11310
|
|
gptkbp:bfsParent
|
gptkb:Medium-chain_acyl-CoA_dehydrogenase
|
|
gptkbp:bfsLayer
|
6
|