Sptan1
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1614426
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资源简介：
Enables spectrin binding activity. Predicted to be involved in actin cytoskeleton organization. Located in several cellular components, including cuticular plate; fascia adherens; and lateral plasma membrane. Is active in paranodal junction. Is expressed in gut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). [provided by Alliance of Genome Resources, Nov 2024]
该基因激活肌动蛋白结合活性，预测参与细胞骨架的组织。位于多个细胞组分之中，包括外皮板、基底膜带以及侧向质膜。在节间区具有活性。在肠道、神经系统、感觉器官以及脾脏中表达。该基因的人源同源物与常染色体显性遗传性远端运动神经元病11以及发育性和癫痫性脑病5有关。与人源SPTAN1（非红细胞肌动蛋白α1）同源。[由基因组资源联盟提供，2024年11月]
提供机构：
Rat Genome Database
