ALDH3B1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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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]

Aldh3b1 knockout mouse phenotype
Characteristic Phenotype
All data available at.[5][10][11]
Peripheral blood leukocytes 6 Weeks Normal
Haematology 6 Weeks Normal
Insulin Normal
Homozygous viability at P14 Abnormal
Homozygous Fertility Normal
Body weight Normal
Neurological assessment Normal
Grip strength Normal
Dysmorphology Normal
Indirect calorimetry Normal
Glucose tolerance test Normal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Eye morphology Normal
Clinical chemistry Normal
Haematology 16 Weeks Normal
Peripheral blood leukocytes 16 Weeks Normal
Heart weight Normal
Salmonella infection Normal
Cytotoxic T Cell Function Normal
Epidermal Immune Composition Normal

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. doi:10.1016/0378-1119(94)90672-6. PMID 7828891.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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. doi:10.1016/S0378-1119(96)00839-6. PMID 9161417.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  3. "Entrez Gene: ALDH3B1".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  4. 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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  5. 5.0 5.1 "International Mouse Phenotyping Consortium".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  6. 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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  7. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  8. 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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  9. 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, Sanger Institute Mouse Genetics Project, 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 (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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  10. 10.0 10.1 "Infection and Immunity Immunophenotyping (3i) Consortium".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  11. 11.0 11.1 "OBCD Consortium".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

External links

Further reading

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  • Sun X, Jia Y, Zhang X, Xu Q, Shen Y, Li Y (Jun 2005). "Multi-locus association study of schizophrenia susceptibility genes with a posterior probability method". Science in China. Series C, Life Sciences / Chinese Academy of Sciences. 48 (3): 263–9. doi:10.1007/bf03183620. PMID 16092759.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • 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. doi:10.1016/0378-1119(94)90672-6. PMID 7828891.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Marchitti SA, Orlicky DJ, Vasiliou V (May 2007). "Expression and initial characterization of human ALDH3B1". Biochemical and Biophysical Research Communications. 356 (3): 792–8. doi:10.1016/j.bbrc.2007.03.046. PMC 1899873. PMID 17382292.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Saito A, Kawamoto M, Kamatani N (Jun 2009). "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects". Journal of Human Genetics. 54 (6): 317–23. doi:10.1038/jhg.2009.31. PMID 19343046.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Wang Y, Hu Y, Fang Y, Zhang K, Yang H, Ma J, Xu Q, Shen Y (Jun 2009). "Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia". Biological Psychiatry. 65 (12): 1048–54. doi:10.1016/j.biopsych.2008.11.027. PMID 19159868.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Yoshida A, Rzhetsky A, Hsu LC, Chang C (Feb 1998). "Human aldehyde dehydrogenase gene family". European Journal of Biochemistry / FEBS. 251 (3): 549–57. doi:10.1046/j.1432-1327.1998.2510549.x. PMID 9490025.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

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