|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
ALDH-E2
ALDHE2
Aldehyde dehydrogenase, mitochondrial
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:cardiovascular_disease
myocardial infarction
liver cirrhosis
alcohol use disorder
alcohol flush reaction
alcohol intolerance
increased risk of esophageal cancer
|
|
gptkbp:cofactor
|
NAD+
|
|
gptkbp:discoveredBy
|
Takeshi Kitagawa
|
|
gptkbp:discoveredIn
|
1980
|
|
gptkbp:encodes
|
mitochondrial aldehyde dehydrogenase
|
|
gptkbp:Entrez_Gene_ID
|
217
|
|
gptkbp:enzymeCommissionNumber
|
EC 1.2.1.3
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
heart
liver
|
|
gptkbp:fullName
|
aldehyde dehydrogenase 2 family member
|
|
gptkbp:function
|
oxidation of acetaldehyde to acetic acid
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPolymorphism
|
rs671
|
|
gptkbp:hasTranscriptVariant
|
2
|
|
gptkbp:HGNC_ID
|
405
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ALDH2
|
|
gptkbp:inhibitedBy
|
gptkb:disulfiram
|
|
gptkbp:involvedIn
|
ethanol metabolism
protection against oxidative stress
detoxification of aldehydes
|
|
gptkbp:length
|
517 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12q24.12
|
|
gptkbp:molecularWeight
|
56 kDa
|
|
gptkbp:mutationAssociatedWith
|
reduced enzyme activity
ALDH2*2 (E487K)
|
|
gptkbp:numberOfExons
|
13
|
|
gptkbp:OMIM
|
100650
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Aldh2
|
|
gptkbp:pathway
|
alcohol metabolism pathway
aldehyde detoxification pathway
|
|
gptkbp:PDB
|
1O01
|
|
gptkbp:proteinFamily
|
aldehyde dehydrogenase family
|
|
gptkbp:rsID
|
rs671
|
|
gptkbp:subcellularLocation
|
mitochondrion
|
|
gptkbp:UniProtID
|
P05091
|
|
gptkbp:bfsParent
|
gptkb:chromosome_12q24
|
|
gptkbp:bfsLayer
|
8
|