Associated Papers
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A et al.
American Journal of Medical Genetics. Part A, 2022
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D et al.
Human Mutation, 2013
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Aten E et al.
Human Mutation, 2010
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Oeffner F et al.
American Journal of Human Genetics, 2009
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