ALDH3B1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ALDH3B1
Identifiers
Aliases ALDH3B1, ALDH4, ALDH7, aldehyde dehydrogenase 3 family member B1
External IDs MGI: 1914939 HomoloGene: 73890 GeneCards: ALDH3B1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001290059
NM_000694
NM_001030010
NM_001161473
NM_001290058

NM_026316

RefSeq (protein)

NP_000685
NP_001025181
NP_001154945
NP_001276987
NP_001276988

NP_080592.2
NP_080592

Location (UCSC) Chr 11: 68.01 – 68.03 Mb Chr 19: 3.91 – 3.93 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Aldehyde dehydrogenase 3 family, member B1 also known as ALDH3B1 is an enzyme that in humans is encoded by the ALDH3B1 gene.[3][4]

Function[edit]

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.[5]

Model organisms[edit]

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.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12] - in-depth bone and cartilage phenotyping[13]

Aldh3b1 knockout mouse phenotype
Characteristic Phenotype
All data available at.[7][12][13]
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[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ "Entrez Gene: ALDH3B1". 
  6. ^ 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. 
  7. ^ a b "International Mouse Phenotyping Consortium". 
  8. ^ 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 3572410Freely accessible. PMID 21677750. 
  9. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  10. ^ 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. 
  11. ^ 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 3717207Freely accessible. PMID 23870131. 
  12. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium". 
  13. ^ a b "OBCD Consortium". 

External links[edit]

Further reading[edit]

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