MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

Journal of Translational Medicine

Natarin Caengprasath¹  Vorasuk Shotelersuk¹  Thantrira Porntaveetus²  Thanakorn Theerapanon² 

[1] Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, 10330, Bangkok, Thailand;Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, 10330, Bangkok, Thailand;Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, 10330, Bangkok, Thailand;

关键词: BRESHECK;    KFSD;    IFAP;    Olmsted syndrome;    Osteogenesis imperfecta;    S2P;   

DOI  :  10.1186/s12967-021-02779-5

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY