Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.
J Transl Med. 2021 Mar 20;19(1):114. doi: 10.1186/s12967-021-02779-5.
The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane. The MBTPS2 is critical for a myriad of cellular processes, ranging from the regulation of cholesterol homeostasis to unfolded protein responses. While its functional role has become much clearer in the recent years, how mutations in the MBTPS2 gene lead to several human disorders with different phenotypes including Ichthyosis Follicularis, Atrichia and Photophobia syndrome (IFAP) with or without BRESHECK syndrome, Keratosis Follicularis Spinulosa Decalvans (KFSD), Olmsted syndrome, and Osteogenesis Imperfecta type XIX remains obscure. This review presents the biological role of MBTPS2 in development, summarizes its mutations and implicated disorders, and discusses outstanding unanswered questions.
X 染色体上的 MBTPS2 基因编码膜结合转录因子蛋白酶，位点 2（MBTPS2）或位点 2 蛋白酶（S2P），其从膜上切割并激活几种信号和调节蛋白。MBTPS2 对于许多细胞过程至关重要，从胆固醇稳态的调节到未折叠蛋白反应。虽然近年来其功能作用变得更加清晰，但 MBTPS2 基因突变如何导致具有不同表型的几种人类疾病，包括伴有或不伴有 BRESHECK 综合征的滤泡性鱼鳞病、无毛发症和畏光综合征（IFAP）、毛囊角化棘皮瘤（KFSD）、Olmsted 综合征和 X 型成骨不全症仍然不清楚。这篇综述介绍了 MBTPS2 在发育中的生物学作用，总结了其突变和相关疾病，并讨论了未解决的悬而未决的问题。
