該基因編碼一個分子支架蛋白家族的成員,該家族將質膜與肌動蛋白細胞骨架連接起來,在決定細胞形狀、跨膜蛋白的排列和細胞器的組織中發揮作用。編碼蛋白主要由22個參與二聚體形成的譜蛋白重復序列組成。它是紅細胞質膜的一個組成部分。該基因突變導致多種遺傳性紅細胞疾病,包括2型橢圓細胞增多癥、嗜熱粒細胞增多癥和3型球形細胞增多癥。[由RefSeq提供,2017年8月]
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]