Product Details

Uniprot No.

Target Names

MBTPS2

Alternative Names

BRESEK antibody; Endopeptidase S2P antibody; IFAP antibody; KFSDX antibody; MBTP2_HUMAN antibody; MBTPS2 antibody; Membrane bound transcription factor site 2 protease antibody; membrane-bound transcription factor peptidase, site 2 antibody; membrane-bound transcription factor protease, site 2 antibody; Membrane-bound transcription factor site-2 protease antibody; S2P antibody; S2P endopeptidase antibody; Site 2 protease antibody; SREBPs intramembrane protease antibody; Sterol regulatory element-binding proteins intramembrane protease antibody

Raised in

Rabbit

Species Reactivity

Human,Mouse,Rat

Immunogen

Synthesized peptide derived from the Internal region of Human S2P.

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Isotype

IgG

Purification Method

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Form

Liquid

Tested Applications

IF, ELISA

Recommended Dilution

Application	Recommended Dilution
IF	1:200-1:1000
ELISA	1:20000

Protocols

Immunofluorescence (IF) Protocol
ELISA Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Background

Function

Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2. Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription. Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B). Involved in intramembrane proteolysis during bone formation.

Gene References into Functions

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. PMID: 27380894
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
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
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
We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome. PMID: 22931912
We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene. PMID: 22816986
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
We confirm that MBTPS2 mutations cause ichthyosis follicularis atricia and photophobia syndrome in patients of Chinese origin PMID: 21315478
Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene PMID: 20854407
Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD). PMID: 20672378
S2P-mediated ATF6 cleavage is involved in regulating XBP1 in signaling the unfolded protein response. PMID: 11850408
S2P cleavage is blocked by the bulky ATF6 luminal domain, which is reduced in size by S1P PMID: 15299016
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
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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Involvement in disease

IFAP syndrome with or without BRESHECK syndrome (IFAPS); Olmsted syndrome, X-linked (OLMSX); Keratosis follicularis spinulosa decalvans X-linked (KFSDX)

Subcellular Location

Membrane; Multi-pass membrane protein. Cytoplasm.

Protein Families

Peptidase M50A family

Tissue Specificity

Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.

Database Links

HGNC: 15455

OMIM: 300294

KEGG: hsa:51360

STRING: 9606.ENSP00000368798

UniGene: Hs.443490