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重组跨膜通道蛋白8
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介绍 基因名: TMC8 半岛bd体育手机客户端 别名: EV2; EVER2; EVIN2; TMC8; transmembrane channel like 8; transmembrane channel like 8; transmembrane channel-like protein 8; epidermodysplasia verruciformis 2; epidermodysplasia verruciformis protein 2; 跨膜通道蛋白8; 背景信息: Transmembrane channel-like protein 8 (TMC8), also known as Epidermodysplasia verruciformis protein 2 (EVER2), is a 726 amino acid member of the TMC family of proteins. Localized to the endoplasmic reticulum membrane, TMC8 is thought to form a transmembrane channel-like protein with eight predicted transmembrane domains and three leucine zipper motifs. Mutations in the genes encoding TMC8 and TMC6, another member of the TMC family, have been shown to cause epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. Infection by HPVs lead to persistent wart-like or macular lesions. TMC8 is expressed in placenta, prostate and testis, and three named isoforms exist as a result of alternative splicing events. 标签:His-tag |
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