ALDH1A1

Source: Wikipedia, the free encyclopedia.
ALDH1A1
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_000689

NM_013467

RefSeq (protein)

NP_000680

NP_038495
NP_001348432
NP_001348433
NP_001348434
NP_001348435

Location (UCSC)Chr 9: 72.9 – 73.08 MbChr 19: 20.49 – 20.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6]

Function

This protein belongs to the

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.[7] 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.[8][9]

ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.[10] ALDH1A1 maintains stemness of cancer cells and several drugs have been designed to target cancer stem cells by targeting ALDH1A1.[11]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165092Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053279Ensembl, 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. PMID 1709013
    .
  6. .
  7. ^ "Entrez Gene: ALDH1A1".
  8. PMID 19298322
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  10. .
  11. .

External links

Further reading

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