MBTPS2 Gene

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:

• Keratosis follicularis spinulosa decalvans (Fong K et al. 2012; Chen C et al. 2016).
• Olmsted syndrome (syndromal ichthyosis with sharply demarcated palmoplantar keratoses, onychodystrophy, periorificial hyperkeratoses, and erythematous hyperkeratotic plaques in the integumentary area, which may also appear under the picture of keratosis pilaris )
• BRESHECK syndrome (malformation syndrome with multiple congenital anomalies, brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney anomalies)
• Ichthyosis follicularis with atrichia and photophobia (IFAB; OMIM:308205).

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

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.