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ALDH3B1

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Identifiers
SymbolsALDH3B1 ; ALDH4; ALDH7
External IDsOMIM600466 MGI1914939 HomoloGene73890 ChEMBL: 4233 GeneCards: ALDH3B1 Gene
EC number1.2.1.5
Orthologs
SpeciesHumanMouse
Entrez22167689
EnsemblENSG00000006534ENSMUSG00000024885
UniProtP43353Q80VQ0
RefSeq (mRNA)NM_000694NM_026316
RefSeq (protein)NP_000685NP_080592
Location (UCSC)Chr 11:
67.53 – 67.55 Mb
Chr 19:
3.91 – 3.93 Mb
PubMed search[1][2]

Aldehyde dehydrogenase 3 family, member B1 also known as ALDH3B1 is an enzyme that in humans is encoded by the ALDH3B1 gene.[1][2]

Function

The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene encodes a single transcript of 2.8 kb that is highly expressed in kidney and lung. The functional significance of this gene and the cellular localization of its product are presently unknown. Two transcript variants encoding different isoforms have been found for this gene.[3]

Model organisms

Model organisms have been used in the study of ALDH3B1 function. A conditional knockout mouse line called Aldh3b1tm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute [4]. Male and female animals underwent a standardized phenotypic screen[5] to determine the effects of deletion.[6][7][8][9] Additional screens performed: - In-depth immunological phenotyping[10] - in-depth bone and cartilage phenotyping[11]

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References

  1. Hsu LC, Chang WC, Yoshida A (Dec 1994). "Cloning of a cDNA encoding human ALDH7, a new member of the aldehyde dehydrogenase family". Gene 151 (1-2): 285–9. PMID 7828891. doi:10.1016/0378-1119(94)90672-6. 
  2. Hsu LC, Chang WC, Yoshida A (Apr 1997). "Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic organization and gene structure comparison". Gene 189 (1): 89–94. PMID 9161417. doi:10.1016/S0378-1119(96)00839-6. 
  3. "Entrez Gene: ALDH3B1". 
  4. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. 
  5. 5.0 5.1 "International Mouse Phenotyping Consortium". 
  6. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V et al. (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. PMC 3572410. PMID 21677750. doi:10.1038/nature10163. 
  7. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. PMID 21677718. doi:10.1038/474262a. 
  8. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. PMID 17218247. doi:10.1016/j.cell.2006.12.018. 
  9. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN et al. (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. PMID 23870131. doi:10.1016/j.cell.2013.06.022. 
  10. 10.0 10.1 "Infection and Immunity Immunophenotyping (3i) Consortium". 
  11. 11.0 11.1 "OBCD Consortium". 

Further reading

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



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