MBTPS2

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MBTPS2

A gene on chromosome Xp22.12-p22.11 that encodes an intramembrane zinc metalloprotease, which is essential in development and involved in signal-protein activation for sterol control of transcription and the ER stress response.

Molecular pathology
MBTPS2 mutations cause ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), which is characterised by altered cholesterol homeostasis and ER stress response, as well as the BRESEK and BRESHECK syndromes.
References in periodicals archive ?
As variaveis IFC, IDC, IFAR e IFAP foram, posteriormente, dicotomizadas em "baixa frequencia" (grupo I) e "outras" (grupo II + grupo III + grupo IV) para melhor visualizacao dos resultados e conducao da analise estatistica.
The 257bp bands indicated a PCR product amplified from the fragrant allele (fgr) by the External Sence Primer (ESP) and Internal Fragrant Antisence Primer (IFAP).
Alshami M, Bawazir MA, Atwan AA.Photoletter to the editor: A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma.
The one -day training programme on Islamic trade finance is part of the Islamic Finance Access Programmes (IFAP), which aims at bringing the highest quality of Islamic financial intelligence to executives and decision makers in the Islamic financial services industry.
Many of the same antibiotics or classes of antibiotics used to treat clinical infections in humans are also used in industrial food animal production (IFAP) (McEwen and Fedorka-Cray 2002).
However, these extensive systems are being replaced by intensive, industrialized farm animal production (IFAP) facilities at a rate of more than 4% per year, particularly in developing countries.
Organized by BCI Aerospace, a division of Business Conventions International (BCI), a world leader in organizing conventions Affairs and the Agency for Foreign Investment Promotion (IFAP), the professional aerospace event aims at establishing a "Convention of International Affairs of aerospace industries".
For his part, Politi who is also the President of the Mediterranean Committee of the International Federation of Agricultural Producers (IFAP) expressed readiness to offer Italy's experience in service of Syrian farmers, hailing the progress made by the Syrian agriculture products, in terms of quality as well as diversity, over the past few years.
16 December 2009 -- The International Federation of Agricultural Producers (IFAP) has called on negotiators at the Copenhagen summit on climate change to recognise that agriculture and forestry is interlinked and part of the solution to climate change.
The IFAP President recently gave a presentation on the prospering of rural economy for peace and stability, at a dinner held by the Namibia Agricultural Union.