Your search for "mbtps2" returned 105 TaqMan® SNP Genotyping Assays
membrane bound transcription factor peptidase, site 2
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]
Please enter the information below and press OK to send your cart to Core Services for purchase.