MBTPS2
gene productS2P
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. [provided by RefSeq, Aug 2009]
Antibodies
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Supportive data in Antibodypedia
Data presented on provider website
Data in Antibodypedia (inconclusive)
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