MBTPS2 membrane bound transcription factor peptidase, site 2 [ Homo sapiens (human) ] - Gene - Data resources

51360

MBTPS2 membrane bound transcription factor peptidase, site 2 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 51360)

Symbol: MBTPS2

Full name: membrane bound transcription factor peptidase, site 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BRESEK; IFAP; KFSD; KFSDX; OI19; OLMSX; S2P

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

Orthologs: mouse

Gene size: 45807bp

Exon count: 11