ALDH1A1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that in humans is encoded by the ALDH1A1 gene.[1][2]

Function

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 East Asians have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians 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]

Transcriptions

"The promoter region of the gene contains an ATA box and a CCAAT box, which are located 32 and 74 bp upstream, respectively, from the transcription initiation site."[5]

References

  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.
  5. Lily C. Hsu, Wen-Chung Chang and Akira Yoshida (November 1989). "Genomic structure of the human cytosolic aldehyde dehydrogenase gene". Genomics. 5 (4): 857–865. doi:10.1016/0888-7543(89)90127-4. Retrieved 2017-11-17.

External links

Further reading

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