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 ?
In response to the uneven effects of globalizing processes in agriculture and their potential to destroy long-standing ways of living in every continent, Via Campesina came into existence in 1992, taking a network form more decentered than that of IFAP and IFOAM.
IFAP estimates average waste at pounds 160 per head this year, against pounds 95 in 2002.
Sort out your self-assessment ( IFAP claims pounds 418m could be wiped out by all forms arriving present and correct by the January 31 deadline.
IF you hope to start saving seriously in the New Year, call IFAP promotion for a free copy of its dedicated guide, Join the Savings Revolution.
To help consumers take more effective control of their spending habits, the IFAP website - www.
David Elms, chief executive at IFAP, said: "Our research shows that more financial planning is needed to avoid the inheritance tax trap.
nINFORMATION: 'Join the saving revolution' guidebook available free on IFAP hotline (0800 085 3250 or visit wwww.
Make a free call to IFAP and they will give you the names and addresses of three IFAs in your area.
IFAP (Independent Financial Advisor Promotion) reveals that UK charities lose more than pounds 359m a year because givers don't give in the most tax-efficient way.
According to a survey by IFAP, which represents Britain's independent financial advisers, we're paying pounds 4billion a year too much in tax - an average of pounds 200 per family.
Major organization : INSTITUTO DE FINANCIAMENTO DA AGRICULTURA E PESCAS, IFAP, IP
But plenty of the potential tax savings listed by IFAP are pretty obvious and can be arranged by anybody on their own account: