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 ?
Quanto aos aspectos funcionais do apoio social, a Tabela 3 mostra que os dados referentes ao IFAR foram semelhantes ao do IFAP, em que 26,3% e 25,7% dos idosos apresentaram baixa frequencia de ajudas recebidas e prestadas, respectivamente.
IFAP President Ajay Vashee said "We need to build institutional capacity to deal with these issues, especially for farmersa organisations.
According to Vashee, the IFAP was involved in the consultation process to produce this report, which many of the recommendations reflected upon their proposals.
In September 2007, in order to support the development of information-literate societies, IFAP funded a series of Training-the-Trainers information literacy workshops--11 in total--that would be scheduled throughout 2008 and into 2009.
IFAP also highlights an oddity in our attitude to tax: while 12 million adults like to think they are beating the taxman by spending an average pounds 552 on cash transactions in a black economy which has grown to pounds 6.
IFAP says the average personal income tax liability standing at pounds 4,200 per year has almost doubled (by 97.
David Elms at IFAP says: "With more and more people feeling the pinch in the current financial climate, it is surprising howmuch we are willing to throwaway in wasted tax payments.
David Elms of experts IFAP said: "Simple steps such as filling out a self-assessment form correctly, making a will and taking full advantage of your tax credits could all help you cut back on wasted cash.
The European Parliament and the Parliamentary Assembly of the Council of Europe are jointly organising, the Second Euro-Mediterranean Conference on Agriculture, with the assistance of the Mediterranean Committee of IFAP (International Federation of Agricultural Producers).
In its early years, IFAP concentrated on setting up a working relationship with the FAO and on trying to promote international commodity agreements for wheat, coffee, cacao, and sugar.
Given the IFAP report, it would seem that consumers have started to develop joined up thinking when it comes to their budgeting behaviour, making the link between their spending, borrowing, saving and long-term financial security, but this may not be entirely the case.
INFORMATION: "Join the saving revolution" guidebook available free on IFAP hotline (0800 085 3250 or visit wwww.