| 释义 |
- Function
- Model organisms
- References
- External links
- Further reading
{{Infobox_gene}}Aldehyde dehydrogenase X, mitochondrial is an enzyme that in humans is encoded by the ALDH1B1 gene.[1][2] 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.[2] Model organismsModel 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.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9] - in-depth bone and cartilage phenotyping[10] Aldh1b1 knockout mouse phenotype| Characteristic | Phenotype |
|---|
| All data available at.[4][9][10] | | Peripheral blood leukocytes 6 Weeks | Normal | | Insulin | Normal | | Haematology 6 Weeks | Normal | | Homozygous viability at P14 | Normal | | 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 | | Spleen Immunophenotyping | Normal | | Mesenteric Lymph Node Immunophenotyping | Normal | | Bone Marrow Immunophenotyping | Normal | | Epidermal Immune Composition | Normal | |
{{clear|left}} References 1. ^{{cite journal | vauthors = Hsu LC, Chang WC | title = Cloning and characterization of a new functional human aldehyde dehydrogenase gene | journal = The Journal of Biological Chemistry | volume = 266 | issue = 19 | pages = 12257–65 | date = Jul 1991 | pmid = 2061311 | pmc = | doi = }}
2. ^1 {{cite web | title = Entrez Gene: ALDH1B1 aldehyde dehydrogenase 1 family, member B1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=219| accessdate = }}
3. ^{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}
4. ^1 {{cite web |url=http://www.mousephenotype.org/data/search?q=Aldh1b1#fq=**&facet=gene |title=International Mouse Phenotyping Consortium}}
5. ^{{cite journal | vauthors = 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 | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}
6. ^{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}
7. ^{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}
8. ^{{cite journal | vauthors = 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 | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 }}
9. ^1 {{cite web |url= http://www.immunophenotyping.org/data/search?keys=Aldh1b1&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}
10. ^1 {{cite web |url=http://www.boneandcartilage.com/ |title=OBCD Consortium}}
External links- {{UCSC gene info|ALDH1B1}}
Further reading {{refbegin|33em}}- {{cite journal | vauthors = Yoshida A | title = Molecular genetics of human aldehyde dehydrogenase | journal = Pharmacogenetics | volume = 2 | issue = 4 | pages = 139–47 | date = Aug 1992 | pmid = 1306115 | doi = 10.1097/00008571-199208000-00001 }}
- {{cite journal | vauthors = Hiraoka LR, Hsu L, Hsieh CL | title = Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13 | journal = Genomics | volume = 25 | issue = 1 | pages = 323–5 | date = Jan 1995 | pmid = 7774944 | doi = 10.1016/0888-7543(95)80150-K }}
- {{cite journal | vauthors = Stewart MJ, Malek K, Xiao Q, Dipple KM, Crabb DW | title = The novel aldehyde dehydrogenase gene, ALDH5, encodes an active aldehyde dehydrogenase enzyme | journal = Biochemical and Biophysical Research Communications | volume = 211 | issue = 1 | pages = 144–51 | date = Jun 1995 | pmid = 7779080 | doi = 10.1006/bbrc.1995.1789 }}
- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
- {{cite journal | vauthors = Sherman D, Davé V, Hsu LC, Peters TJ, Yoshida A | title = Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene | journal = Human Genetics | volume = 92 | issue = 5 | pages = 477–80 | date = Nov 1993 | pmid = 8244338 | doi = 10.1007/BF00216454 }}
- {{cite journal | vauthors = Stewart MJ, Malek K, Crabb DW | title = Distribution of messenger RNAs for aldehyde dehydrogenase 1, aldehyde dehydrogenase 2, and aldehyde dehydrogenase 5 in human tissues | journal = Journal of Investigative Medicine | volume = 44 | issue = 2 | pages = 42–6 | date = Feb 1996 | pmid = 8689400 | doi = }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = Luo P, Wang A, Payne KJ, Peng H, Wang JG, Parrish YK, Rogerio JW, Triche TJ, He Q, Wu L | title = Intrinsic retinoic acid receptor alpha-cyclin-dependent kinase-activating kinase signaling involves coordination of the restricted proliferation and granulocytic differentiation of human hematopoietic stem cells | journal = Stem Cells | volume = 25 | issue = 10 | pages = 2628–37 | date = Oct 2007 | pmid = 17628022 | doi = 10.1634/stemcells.2007-0264 }}
{{refend}}{{Aldehyde dehydrogenases}}{{gene-9-stub}} |