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    GlossaryMBTPS2 (MBTPS2 gene)

    encodes an enzyme regulating cholesterol and lipid metabolism

    MBTPS2 stands for Membrane-Bound Transcription Factor Peptidase, Site 2. It is a gene that encodes an enzyme involved in the regulation of cholesterol and lipid metabolism by activating certain transcription factors. Mutations in the MBTPS2 gene can lead to disorders such as ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome, which affect the skin, hair, and eyes.

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