Publikationsdatum:
1986-11-07
Beschreibung:
Uroporphyrinogen decarboxylase deficiency in man is responsible for familial porphyria cutanea tarda and hepatoerythropoietic porphyria. A recent study of a family with hepatoerythropoietic porphyria showed that the enzyme defect resulted from rapid degradation of the protein in vivo. Cloning and sequencing of a complementary DNA for the mutated gene revealed that the mutation was due to the replacement of a glycine residue by a glutamic acid residue at position 281. This base change leads to a protein that is very rapidly degraded in the presence of cell lysate. Characterization of the mutation will allow comparison of this defect in a homozygous patient with defects in other patients with familial porphyria cutanea tarda.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉de Verneuil, H -- Grandchamp, B -- Beaumont, C -- Picat, C -- Nordmann, Y -- New York, N.Y. -- Science. 1986 Nov 7;234(4777):732-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3775362" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
Amino Acid Sequence
;
Carboxy-Lyases/*genetics
;
Cloning, Molecular
;
DNA/genetics
;
Humans
;
Liver Diseases/genetics
;
Mutation
;
Porphyrias/*genetics
;
Skin Diseases/genetics
;
Structure-Activity Relationship
;
Uroporphyrinogen Decarboxylase/deficiency/*genetics/metabolism
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
