Aldehyde dehydrogenase 2 family member
Also known as ALDH2, epididymis secretory sperm binding protein, liver mitochondrial ALDH, ALDHI, acetaldehyde dehydrogenase 2, aldehyde dehydrogenase, mitochondrial, aldehyde dehydrogenase 2 family (mitochondrial), ALDH class 2
Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH2 gene located on chromosome 12. ALDH2 belongs to the aldehyde dehydrogenase family of enzymes. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. ALDH2 has a low Km for acetaldehyde, and is localized in mitochondrial matrix. The other liver isozyme, ALDH1, localizes to the cytosol.
Key facts
- Single nucleotide polymorphism.rsid
- 671
- Single nucleotide polymorphism.Name
- ALDH2*2
- Single nucleotide polymorphism.name_1
- g.42421G>A
- Single nucleotide polymorphism.name_2
- Glu504Lys
- Single nucleotide polymorphism.gene
- ALDH2
- Single nucleotide polymorphism.chromosome
- 12
- Single nucleotide polymorphism.region
- Exon
via Wikipedia infobox
~8 min read
Article
16 sectionsContents
- Gene
- Enzyme structure
- Function
- Genetic variation
- Distribution
- Clinical significance
- Inhibition and genetic deficiency
- Alcohol metabolism
- Various conditions
- Alzheimer's disease
- Activation
- Interactions
- See also
- References
- Further reading
- External links
Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH2 gene located on chromosome 12. ALDH2 belongs to the aldehyde dehydrogenase family of enzymes. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. ALDH2 has a low Km for acetaldehyde, and is localized in mitochondrial matrix. The other liver isozyme, ALDH1, localizes to the cytosol.
Most White people have both major isozymes, while approximately 36% of East Asians have the cytosolic isozyme but not a functional mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Whites could be related to this absence of a catalytically active form of ALDH2. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer.