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anti-Human MBTPS2 Antibodies:
anti-Mouse (Murine) MBTPS2 Antibodies:
anti-Rat (Rattus) MBTPS2 Antibodies:
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S2P is essential owing to its activation of the sterol regulatory element binding proteins (SREBPs); in the absence of exogenous lipid, cells lacking S2P cannot survive. (Review)
In male patients, a genotype-phenotype correlation has begun to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome.
We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome.
We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene.
Both intronic MBTPS2 c.671-9T>G and c.225-6T>A point mutations are ichthyosis (show LBR Antibodies) follicularis, alopecia and photophobia syndrome causing mutations.
We confirm that MBTPS2 mutations cause ichthyosis (show LBR Antibodies) follicularis atricia and photophobia syndrome in patients of Chinese origin
Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene
Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD (show SAT1 Antibodies)).
S2P-mediated ATF6 (show ATF6 Antibodies) cleavage is involved in regulating XBP1 (show XBP1 Antibodies) in signaling the unfolded protein response.
S2P cleavage is blocked by the bulky ATF6 (show ATF6 Antibodies) luminal domain, which is reduced in size by S1P (show MBTPS1 Antibodies)
Data detected yy1 (show YY1 Antibodies), yy2 (show YY2 Antibodies), and mbtps2 mRNA in primary mouse neurons, microglia cells, and astrocytes. In comparison to yy2 (show YY2 Antibodies) and mbtps2, yy1 (show YY1 Antibodies) revealed the highest expression level in all cell types.
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.
SREBPs intramembrane protease
, endopeptidase S2P
, membrane-bound transcription factor protease, site 2
, membrane-bound transcription factor site-2 protease
, sterol regulatory element-binding proteins intramembrane protease
, S2P endopeptidase
, site-2 protease
, Endopeptidase S2P
, Sterol regulatory element-binding proteins intramembrane protease