Immunohistochemical staining (Formalin-fixed paraffin-embedded sections) of human rectum with MBTPS2 polyclonal antibody (Cat # PAB30392) shows moderate cytoplasmic positivity in glandular cells at 1:20-1:50 dilution.
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
OTTHUMP00000023046,membrane-bound transcription factor protease, site 2