|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:T2
mitochondrial acetoacetyl-CoA thiolase
|
|
gptkbp:associatedWith
|
beta-ketothiolase deficiency
|
|
gptkbp:discoveredBy
|
1970s
|
|
gptkbp:encodes
|
acetyl-CoA acetyltransferase enzyme
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000160179
38
|
|
gptkbp:enzymeCommissionNumber
|
2.3.1.9
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
heart
liver
|
|
gptkbp:fullName
|
acetyl-CoA acetyltransferase 1
|
|
gptkbp:function
|
catalyzes the formation of acetoacetyl-CoA from two molecules of acetyl-CoA
involved in isoleucine degradation
involved in ketone body metabolism
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:84
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACAT1
|
|
gptkbp:length
|
427 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11q22.3
|
|
gptkbp:location
|
mitochondria
|
|
gptkbp:molecularWeight
|
45 kDa
|
|
gptkbp:mutationAssociatedWith
|
metabolic acidosis
ketotic hypoglycemia
|
|
gptkbp:OMIM
|
607809
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Acat1
|
|
gptkbp:pathway
|
isoleucine catabolism
ketone body biosynthesis
|
|
gptkbp:proteinFamily
|
thiolase family
|
|
gptkbp:UniProtID
|
P24752
|
|
gptkbp:bfsParent
|
gptkb:ACAT
|
|
gptkbp:bfsLayer
|
8
|