[Human serum albumin: isoforms and analbuminemia].
Persons with human serum albumin and a genetic variant are relatively common, whereas variant homozygotes are rare. About 65 structurally different variants are known. There is no clear relationship between bisalbuminemia and disease, and therefore isoforms are detected either because of a very pronounced increase in ligand binding or because of a modified electrophoretic mobility. The latter albumins may have modified binding and/or immunological properties. Analbuminemia is a rare but relative benign, homozygote condition in which especially the lipid metabolism is affected.
Kragh-Hansen
Ulrich
U
Aarhus Universitet, Institut for Medicinsk Biokemi, Arhus C. ukh@biokemi.au.dk
D004588:Electrophoresis, Cellulose Acetate; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D006981:Hyperthyroxinemia / Q000097:blood* / Q000235:genetics; D007536:Isomerism; D008024:Ligands; D020033:Protein Isoforms; D012709:Serum Albumin / Q000737:chemistry* / Q000235:genetics / Q000276:immunology / Q000378:metabolism
D008024:Ligands; D020033:Protein Isoforms; D012709:Serum Albumin