ALDH1B1

Aldehyde dehydrogenase X, mitochondrial is an enzyme that in humans is encoded by the ALDH1B1 gene.[5][6]

ALDH1B1
Identifiers
AliasesALDH1B1, ALDH5, ALDHX, aldehyde dehydrogenase 1 family member B1
External IDsOMIM: 100670 MGI: 1919785 HomoloGene: 115470 GeneCards: ALDH1B1
Orthologs
SpeciesHumanMouse
Entrez

219

72535

Ensembl

ENSG00000137124

ENSMUSG00000035561

UniProt

P30837

Q9CZS1

RefSeq (mRNA)

NM_000692

NM_028270

RefSeq (protein)

NP_000683

NP_082546

Location (UCSC)Chr 9: 38.39 – 38.4 MbChr 4: 45.8 – 45.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems.[6]

Model organisms

Model organisms have been used in the study of ALDH1B1 function. A conditional knockout mouse line called Aldh1b1tm2a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: - In-depth immunological phenotyping[13] - in-depth bone and cartilage phenotyping[14]

References

  1. GRCh38: Ensembl release 89: ENSG00000137124 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000035561 - Ensembl, 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. Hsu LC, Chang WC (Jul 1991). "Cloning and characterization of a new functional human aldehyde dehydrogenase gene". The Journal of Biological Chemistry. 266 (19): 12257–65. doi:10.1016/S0021-9258(18)98890-3. PMID 2061311.
  6. "Entrez Gene: ALDH1B1 aldehyde dehydrogenase 1 family, member B1".
  7. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  8. "International Mouse Phenotyping Consortium".
  9. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  10. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  12. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  13. "Infection and Immunity Immunophenotyping (3i) Consortium". Archived from the original on 2015-05-21. Retrieved 2015-05-19.
  14. "OBCD Consortium".

Further reading


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