MBTPS2, Official Symbol MBTPS2provided by HGNC Official Full Name membrane bound transcription factor peptidase, site 2provided by HGNC Primary source HGNC:HGNC:15455 See related Ensembl:ENSG00000012174 MIM:300294; AllianceGenome:HGNC:15455 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK Summary 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] Expression Ubiquitous expression in adrenal (RPKM 6.7), ovary (RPKM 6.4) and 25 other tissues See more Orthologs mouse all