ALDH3B1

Aldehyde dehydrogenase 3 family, member B1
Identifiers
Symbols	ALDH3B1 ; ALDH4; ALDH7
External IDs	OMIM: 600466 MGI: 1914939 HomoloGene: 73890 ChEMBL: 4233 GeneCards: ALDH3B1 Gene
EC number	1.2.1.5
Gene ontology Molecular function • 3-chloroallyl aldehyde dehydrogenase activity • aldehyde dehydrogenase [NAD(P)+ activity] • protein binding Cellular component • cytoplasm • cytosol • plasma membrane • vesicle • extracellular exosome Biological process • alcohol metabolic process • ethanol catabolic process • lipid metabolic process • cellular response to oxidative stress • aldehyde catabolic process • oxidation-reduction process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	221	67689
Ensembl	ENSG00000006534	ENSMUSG00000024885
UniProt	P43353	Q80VQ0
RefSeq (mRNA)	NM_000694	NM_026316
RefSeq (protein)	NP_000685	NP_080592
Location (UCSC)	Chr 11: 68.01 – 68.03 Mb	Chr 19: 3.91 – 3.93 Mb
PubMed search

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 Aldh3b1^{tm1b(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.
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.
3. "Entrez Gene: ALDH3B1".
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.
5. "International Mouse Phenotyping Consortium".
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.
7. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
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.
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.
10. "Infection and Immunity Immunophenotyping (3i) Consortium".
11. "OBCD Consortium".

Further reading

• 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.
• 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.
• 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.
• 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.
• 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.
• 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.

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