ALDH1A1

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Aldehyde dehydrogenase 1 family, member A1
PDB 1bxs EBI.jpg
PDB rendering based on 1bxs.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ALDH1A1 ; ALDC; ALDH-E1; ALDH1; ALDH11; PUMB1; RALDH1
External IDs OMIM100640 MGI1353450 HomoloGene110441 ChEMBL: 3577 GeneCards: ALDH1A1 Gene
EC number 1.2.1.36
Orthologs
Species Human Mouse
Entrez 216 11668
Ensembl ENSG00000165092 ENSMUSG00000053279
UniProt P00352 P24549
RefSeq (mRNA) NM_000689 NM_013467
RefSeq (protein) NP_000680 NP_038495
Location (UCSC) Chr 9:
75.52 – 75.7 Mb
Chr 19:
20.6 – 20.64 Mb
PubMed search [1] [2]

Aldehyde dehydrogenase 1 family, member A1 also known as ALDH1A1 is an enzyme that in humans is encoded by the ALDH1A1 gene.[1][2]

Function[edit]

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes the main cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial enzyme.[3]

ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.[4]

References[edit]

  1. ^ Pereira F, Rosenmann E, Nylen E, Kaufman M, Pinsky L, Wrogemann K (March 1991). "The 56 kDa androgen binding protein is an aldehyde dehydrogenase". Biochem. Biophys. Res. Commun. 175 (3): 831–8. doi:10.1016/0006-291X(91)91640-X. PMID 1709013. 
  2. ^ Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A (June 1985). "Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2". Proc. Natl. Acad. Sci. U.S.A. 82 (11): 3771–5. doi:10.1073/pnas.82.11.3771. PMC 397869. PMID 2987944. 
  3. ^ "Entrez Gene: ALDH1A1". 
  4. ^ Jester JV, Moller-Pedersen T, Huang J, Sax CM, Kays WT, Cavangh HD, Petroll WM, Piatigorsky J (March 1999). "The cellular basis of corneal transparency: evidence for 'corneal crystallins'". J. Cell. Sci. 112. ( Pt 5): 613–22. PMID 9973596. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.