title: Red cell membrane protein band 4.2: phenotypic, genetic and electron microscopic aspects.
abstract: The present status of band 4.2 has been reviewed from the standpoint of protein chemistry, gene analysis and clinical hematology. Band 4.2 plays an important role in various cellular functions. In 142 GCT-->ACT band 4.2 deficiency, abnormalities of the cytoskeletal network were clearly observed by electron microscopy and by ektacytometry, although the cytoskeletal proteins themselves were essentially normal in these red cells. The physiological states of band 3 in situ in the membranes were also affected in band 4.2 deficiency, as detected by electron microscopy, although again the biochemical properties of band 3 itself were essentially normal in these red cells. Other disorders of band 4.2 deficiency in the absence of the 142 GCT-->ACT mutation appear to be most interesting in the pathogenesis of hemolysis. In some of the band 4.2 anomalies, other membrane proteins including band 3 would appear to be most pathognomonic for the disease states. These conditions require elucidation by protein chemistry and gene analysis. The control mechanism of the gene expression should also be clarified to understand the important role of band 4.2 in health and disease.
authors.affiliation: Department of Medicine, Kawasaki Medical School, Kurashiki, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yawata
mesh_terms: D001798:Blood Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology / Q000648:ultrastructure; D003598:Cytoskeletal Proteins; D004910:Erythrocyte Membrane / Q000737:chemistry*; D015870:Gene Expression; D006801:Humans; D008565:Membrane Proteins; D010641:Phenotype; D017354:Point Mutation
chemical_list: D001798:Blood Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C044791:erythrocyte membrane band 4.2 protein