Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 09.08.2022

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MBTPS2 gene; Membrane Bound Transcription Factor Peptidase, Site 2

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MBTPS2 encodes a membrane-bound zinc metalloprotease, the "sterol regulatory element-binding protein-2" with the acronym "SREBP2". This zinc metalloprotease acts as a regulatory protein, and performs an important function as a transcription factor in cholesterol metabolism.

Different mutations in the MBTPS2 gene are associated with various keratinization abnormalities, such as:

Another mutation in the MBTPS2 gene results in X-linked osteogenesis imperfecta without evidence of keratosis follicularis spinulosa decalvans (Caengprasath N et al. 2021).

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  1. Caengprasath N et al. (2021) MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. J Transl Med 19:114.
  2. Chen C et al (2016) Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. Int J Dermatol 58:493-496.
  3. Fong K et al (2012) MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clin Exp Dermatol 37:631-634.
  4. Zhang J et al. (2016) Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. Clin Exp Dermatol 41:757-760.


Last updated on: 09.08.2022