Alpha II-spectrin, also known as Spectrin alpha chain, brain is a protein that in humans is encoded by the SPTAN1 gene. [5][6][7] Alpha II-spectrin is expressed in a variety of tissues, and is …

2025年3月30日 · SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTAN1 include Developmental And Epileptic Encephalopathy 5 …

Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, which encodes α-II spectrin. The aim of this review is to …

Spectrins 是一个丝状细胞骨架蛋白家族，作为必需的支架蛋白发挥作用，可稳定质膜并组织细胞内细胞器。 Spectrins 由 alpha 和 beta 二聚体组成，它们结合形成以头对头排列连接的四聚体 …

2023年10月16日 · The spectrins, including nonerythrocytic alpha-spectrin-1 (SPTAN1), are a family of widely-distributed filamentous cytoskeletal proteins which have a highly conserved …

2023年1月1日 · Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic …

简介：αII-血影蛋白基因SPTAN1 (OMIM 182810)编码一种膜 支架蛋白，该蛋白在维护有髓神经轴突的完整性、轴突发育和突触发生中起着重要作用。 SPTAN1杂合致病变异已被报道具有不同 …

2023年10月16日 · Here, we report that high cell density induced the phosphorylation of spectrin α chain, nonerythrocytic 1 (SPTAN1), a plasma membrane-stabilizing protein, to recruit NUMB …

SPTAN1-related disorders comprise a wide spectrum of neurodevelopmental phenotypes ranging from mild to severe and progressive. Spectrin aggregate formation in fibroblasts with …

Information for family members and care givers of individuals with mutations in the SPTAN1 gene. The SPTAN1 gene encodes the protein alpha-II spectrin, a key structural component of the …