這個基因編碼一種參與周圍神經髓鞘維持的蛋白質。編碼蛋白包含2個pdz結構域,分別以psd95(突觸后密度蛋白)、dlga(果蠅椎間盤大腫瘤抑制蛋白)和zo1(哺乳動物緊密連接蛋白)命名。已經描述了該基因的兩個選擇性剪接轉錄變體,它們編碼不同的蛋白質亞型,并且在雪旺細胞中具有不同的靶向性。該基因突變可引起腓骨肌萎縮癥、4F型和Dejerine Sottas神經病變。
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy.