ALDH2

ALDH2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALDH2, ALDH-E2, ALDHI, ALDM, aldehyde dehydrogenase 2 family (mitochondrial), aldehyde dehydrogenase 2 family member
External IDsOMIM: 100650; MGI: 99600; HomoloGene: 55480; GeneCards: ALDH2; OMA:ALDH2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001204889
NM_000690

NM_009656
NM_001308450

RefSeq (protein)

NP_000681
NP_001191818

NP_001295379
NP_033786

Location (UCSC)Chr 12: 111.77 – 111.82 MbChr 5: 121.7 – 121.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH2 gene located on chromosome 12.[5][6] 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.[7]

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.[8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111275Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029455Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Yoshida A, Ikawa M, Hsu LC, Tani K (1985). "Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases". Alcohol. 2 (1): 103–6. doi:10.1016/0741-8329(85)90024-2. PMID 4015823.
  6. ^ Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A (Jun 1985). "Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2". Proceedings of the National Academy of Sciences of the United States of America. 82 (11): 3771–5. Bibcode:1985PNAS...82.3771H. doi:10.1073/pnas.82.11.3771. PMC 397869. PMID 2987944.
  7. ^ "Entrez Gene: ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)".
  8. ^ Seitz HK, Meier P (2007). "The role of acetaldehyde in upper digestive tract cancer in alcoholics". Transl Res. 149 (6): 293–7. doi:10.1016/j.trsl.2006.12.002. PMID 17543846.