title: Rare structural variants of human and murine uroporphyrinogen I synthase.
abstract: An isoelectric focusing method for detection of structural variants of the enzyme uroporphyrinogen I synthase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in mammalian tissues has been developed. Mouse and human erythrocytes contain one or two major isozymes of uroporphyrinogen I synthase, respectively. Other tissues contain a set of more acidic isozymes that are encoded by the same structural gene as the erythrocyte isozymes. Mouse populations studied with this method were monomorphic for uroporphyrinogen I synthase, with the exception of one feral mouse population. The pedigree of a human family with a rare structural variant is consistent with autosomal linkage of the structural gene. This system provides a convenient isozyme marker for genetic studies and will facilitate determination of the chromosomal location of the uroporphyrinogen I synthase locus.
mesh_terms: D000642:Ammonia-Lyases / Q000235:genetics*; D000818:Animals; D004912:Erythrocytes / Q000201:enzymology; D006358:Hot Temperature; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D007526:Isoelectric Point; D007527:Isoenzymes / Q000235:genetics*; D051379:Mice / Q000235:genetics; D011489:Protein Denaturation; D013045:Species Specificity
chemical_list: D007527:Isoenzymes; D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases