Dehidrataza delta aminolevulinske kiseline je enzim koji je kod ljudi kodiran ALAD genom.[4][5]
ALAD enzim se sastoji od 8 identičnih podjedinica i katalizuje kondenzaciju 2 molekula delta-aminolevulinata, čime se formira porfobilinogen (prekurzor hema, citohroma i drugih hemoproteina). ALAD katalizuje drugi korak u porfirinskom i hemnom biosintetičkom putu. Cink je esencijalan za enzimatsku aktivnost. Olovo inhibira ALAD, počevši od krvnih nivoa olova koji su nekad smatrani bezbednim (<10 μg/dL) i postoji negativna korelacija duž opseg od 5 do 95 μg/dL.[6] Inhibicija ALAD-a olovom dovodi do anemije, prvenstveno zbog inhibicije sinteze hema i skraćivanja životnog veka cirkulišućih crvenih krvnih zrnaca, ali i zbog stimulisanja prekomerne produkcije hormona eritropoietina, što dovodi do neadekvatne maturacije crvenih krvnih zrnaca iz njihovih progenitora. Defekat u ALAD strukturnom genu može da dovede do povećane senzitivnosti na trovanje olovom i akutne hepatičke porfirije. Alternativno splajsovane transkriptne varijante koje kodiraju različite izoforme su identifikovane.[7]
Vidi još
Reference
- ^ а б в GRCm38: Ensembl release 89: ENSMUSG00000028393 - Ensembl, May 2017
- ^ „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Eiberg H, Mohr J, Nielsen LS (1983). „delta-Aminolevulinatedehydrase: synteny with ABO-AK1-ORM (and assignment to chromosome 9)”. Clin Genet. 23 (2): 150—4. PMID 6839527. doi:10.1111/j.1399-0004.1983.tb01864.x.
- ^ Beaumont C; Foubert C; Grandchamp B; Weil D; Van Cong N'Guyen; Gross MS; Nordmann Y (1984). „Assignment of the human gene for delta aminolevulinate dehydrase to chromosome 9 by somatic cell hybridization and specific enzyme immunoassay”. Ann Hum Genet. 48 (Pt 2): 153—9. PMID 6378062. doi:10.1111/j.1469-1809.1984.tb01010.x.
- ^ Abadin H, Ashizawa A, Stevens YW, Llados F, Diamond G, Sage G, Citra M, Quinones A, Bosch SJ, Swarts SG (2007). Toxicological Profile for Lead (PDF). Atlanta, GA: Agency for Toxic Substances and Disease Registry (US). стр. 22, 30. PMID 24049859. Приступљено 22. 11. 2015.
- ^ „Entrez Gene: ALAD aminolevulinate, delta-, dehydratase”.
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