title: Spectrin: structure, function and disease.
abstract: Spectrin is a large, cytoskeletal, and heterodimeric protein composed of modular structure of α and β subunits, it typically contains 106 contiguous amino acid sequence motifs called "spectrin repeats". Spectrin is crucial for maintaining the stability and structure of the cell membrane and the shape of a cell. Moreover, it contributes to diverse cell functions such as cell adhesion, cell spreading, and the cell cycle. Mutations of spectrin lead to various human diseases such as hereditary hemolytic anemia, type 5 spinocerebellar ataxia, cancer, as well as others. This review focuses on recent advances in determining the structure and function of spectrin as well as its role in disease.
authors.affiliation: Jiangsu Engineering Research Center for microRNA Biology and Biotechnology, State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing, 210093, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.forename: ChenYu
authors.initials: C
authors.lastname: Zhang
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhao
authors.forename: DongHai
authors.initials: D
authors.lastname: Li
mesh_terms: D000818:Animals; D001693:Biological Transport, Active; D002448:Cell Adhesion; D002453:Cell Cycle; D002465:Cell Movement; D015321:Gene Rearrangement; D006801:Humans; D050356:Lipid Metabolism; D008958:Models, Molecular; D015394:Molecular Structure; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D009154:Mutation; D011487:Protein Conformation; D021122:Protein Subunits; D013049:Spectrin / Q000737:chemistry* / Q000235:genetics / Q000502:physiology*
chemical_list: D050505:Mutant Proteins; D021122:Protein Subunits; D013049:Spectrin