ALDH1A1

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Associate Editor(s)-in-Chief: Henry A. Hoff

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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
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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

"The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet."[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. RefSeq (March 2011). ALDH1A1 aldehyde dehydrogenase 1 family member A1 [ Homo sapiens (human) ]. 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2017-02-04.
  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.




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