Dehidrataza delta aminolevulinske kiseline

Dehidrataza delta aminolevulinske kiseline je enzim koji je kod ljudi kodiran ALAD genom.

ALAD
Available structures PDB Pretraga ortologa: PDBe RCSB List of PDB id codes 1E51, 1PV8, 5HNR, 5HMS
Identifikatori
Alijasi	ALAD
Spoljašnji ID	OMIM: 125270 MGI: 96853 HomoloGene: 16 GeneCards: ALAD
Genska lokacija (miš) Hr. Chromosome 4 (mouse) Band 4 B3|4 33.17 cM Start 62,427,406 bp Kraj 62,438,155 bp
Obrazac RNK izražavanja More reference expression data
Genska ontologija Molecular function • porphobilinogen synthase activity • везивање јона цинка • metal ion binding • catalytic activity • lyase activity • identical protein binding • proteasome core complex binding Cellular component • цитосол • extracellular exosome • једро • ванћелијска област • ванћелијски простор • secretory granule lumen • ficolin-1-rich granule lumen • proteasome core complex Biological process • cellular response to interleukin-4 • response to ionizing radiation • response to platinum ion • response to selenium ion • response to amino acid • cellular response to lead ion • реакција на хипоксију • response to cadmium ion • response to fatty acid • response to vitamin B1 • GO:1904578 response to organic cyclic compound • response to vitamin • response to nutrient • response to metal ion • response to zinc ion • одговор на глукокортикоидни подстицај • response to arsenic-containing substance • protoporphyrinogen IX biosynthetic process • GO:0001306 response to oxidative stress • response to organic substance • response to activity • tetrapyrrole biosynthetic process • porphyrin-containing compound biosynthetic process • response to vitamin E • response to iron ion • heme biosynthetic process • реакција на липополисахарид • response to nutrient levels • реакција на јоне олова • response to inorganic substance • response to aluminum ion • response to hormone • response to mercury ion • метаболизам • response to methylmercury • реакција на етанол • response to cobalt ion • protein homooligomerization • одговор на отровну супстанцу • response to herbicide • neutrophil degranulation • negative regulation of proteasomal protein catabolic process Sources:Amigo / QuickGO
Ortolozi
Vrste	Čovek	Miš
Entrez	210	17025
Ensembl	ENSG00000148218	ENSMUSG00000028393
UniProt	P13716	P10518
RefSeq (mRNA)	NM_000031 NM_001003945 NM_001317745	NM_001276446 NM_008525
RefSeq (protein)	NP_000022 NP_001003945 NP_001304674	NP_001263375 NP_032551
Location (UCSC)	n/a	Chr 4: 62.43 – 62.44 Mb
PubMed search
Wikidata
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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. 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.

Vidi još

• Porfobilinogenska sintaza, EC 4.2.1.24

Literatura

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