MBTPS2 Antibody

1. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. PMID: 27380894
2. This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway. PMID: 28717930
3. 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) PMID: 23571157
4. 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. PMID: 23316014
5. We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome. PMID: 22931912
6. We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene. PMID: 22816986
7. Both intronic MBTPS2 c.671-9T>G and c.225-6T>A point mutations are ichthyosis follicularis, alopecia and photophobia syndrome causing mutations. PMID: 21426410
8. We confirm that MBTPS2 mutations cause ichthyosis follicularis atricia and photophobia syndrome in patients of Chinese origin PMID: 21315478
9. Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene PMID: 20854407
10. Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD). PMID: 20672378
11. S2P-mediated ATF6 cleavage is involved in regulating XBP1 in signaling the unfolded protein response. PMID: 11850408
12. S2P cleavage is blocked by the bulky ATF6 luminal domain, which is reduced in size by S1P PMID: 15299016
13. assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype PMID: 19361614
14. study presents the largest kindred of ichthyosis follicularis, alopecia and photophobia (IFAP) reported to date clearly demonstrating X-linked inheritance; missense mutations of the gene, MBTPS2 are associated with the IFAP phenotype in this kindred PMID: 19689518

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HGNC: 15455

OMIM: 300294

KEGG: hsa:51360

STRING: 9606.ENSP00000368798

UniGene: Hs.443490