MBTPS2 Back

membrane-bound transcription factor peptidase, site 2

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NCBI Description of MBTPS2
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MBTPS2 is highly significantly mutated in
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MBTPS2 is significantly mutated in
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MBTPS2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for MBTPS2