Biology:ALDH1A1

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that 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; this gene encodes the main cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial enzyme.[3] 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. Furthermore, mutations in this enzyme have been linked to alcoholism in humans.[4][5]

ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.[6] ALDH1A1 maintains stemness of cancer cells and several drugs have been designed to target cancer stem cells by targeting ALDH1A1.[7]

References

  1. "The 56 kDa androgen binding protein is an aldehyde dehydrogenase". Biochemical and Biophysical Research Communications 175 (3): 831–8. March 1991. doi:10.1016/0006-291X(91)91640-X. PMID 1709013. 
  2. "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. June 1985. doi:10.1073/pnas.82.11.3771. PMID 2987944. Bibcode1985PNAS...82.3771H. 
  3. "Entrez Gene: ALDH1A1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=216. 
  4. "Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans". Alcoholism: Clinical and Experimental Research 33 (5): 848–57. May 2009. doi:10.1111/j.1530-0277.2009.00904.x. PMID 19298322. 
  5. "Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations". Alcoholism: Clinical and Experimental Research 35 (2): 304–16. February 2011. doi:10.1111/j.1530-0277.2010.01346.x. PMID 21083667. 
  6. "The cellular basis of corneal transparency: evidence for 'corneal crystallins'". Journal of Cell Science. 112 112 (5): 613–22. March 1999. doi:10.1242/jcs.112.5.613. PMID 9973596. 
  7. "Targeting Aldehyde Dehydrogenases to Eliminate Cancer Stem Cells in Gynecologic Malignancies". Cancers 12 (4): 961. April 2020. doi:10.3390/cancers12040961. PMID 32295073. 

External links

Further reading

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