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Porphobilinogen deaminase (hydroxymethylbilane synthase, or uroporphyrinogen I synthase) is an enzyme (EC 2.5.1.61) that in humans is encoded by the HMBS gene. Porphobilinogen deaminase is involved in the third step of the heme biosynthetic pathway.
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias. [1] [2] [3]
Porphobilinogen (PBG) is an organic compound that occurs in living organisms as an intermediate in the biosynthesis of porphyrins, which include critical substances like hemoglobin and chlorophyll. [ 1 ]
HMB is generated from four molecules of porphobilinogen by the enzyme porphobilinogen deaminase: [2] The enzyme uroporphyrinogen III synthase closes the chain to form uroporphyrinogen III: [2] Uroporphyrinogen III is a porphyrinogen, which is a class of compounds with the hexahydroporphine macrocycle.
Aminolevulinic acid dehydratase (porphobilinogen synthase, or ALA dehydratase, or aminolevulinate dehydratase) is an enzyme (EC 4.2.1.24) that in humans is encoded by the ALAD gene. [ 5 ] [ 6 ] Porphobilinogen synthase (or ALA dehydratase , or aminolevulinate dehydratase ) synthesizes porphobilinogen through the asymmetric condensation of two ...
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Aminolevulinic acid dehydratase deficiency porphyria (also known as Doss porphyria, [1] plumboporphyria, [1] or ADP [2]) is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic acid dehydratase (), which is required for normal heme synthesis.
12892 Ensembl n/a ENSMUSG00000022742 UniProt P36551 P36552 RefSeq (mRNA) NM_000097 NM_007757 RefSeq (protein) NP_000088 NP_031783 Location (UCSC) n/a Chr 16: 58.49 – 58.54 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coprogen oxidase coproporphyrinogen iii oxidase from leishmania major Identifiers Symbol Coprogen oxidase Pfam PF01218 InterPro IPR001260 PROSITE PDOC00783 ...