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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MBTPS2-20-RE | 20 (40 μL) | 200 μL |  |
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| MBTPS2-20-OR | 20 (40 μL) | 200 μL |  |
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| MBTPS2-20-GO | 20 (40 μL) | 200 μL |  |
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| MBTPS2-20-GR | 20 (40 μL) | 200 μL |  |
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| MBTPS2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : MBTPS2
Gene Name : Membrane bound transcription factor peptidase, site 2
Chromosome : CHR X: 218,395,37-218,854,22
Locus : Xp22.12
Alt. Genes : FAM13A
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