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Mouse Anti-MBTPS2 (AA 312-418) Recombinant Antibody (CBFYM-1843) (CBMAB-M2011-FY)

This product is mouse antibody that recognizes MBTPS2. The antibody CBFYM-1843 can be used for immunoassay techniques such as: ELISA, IF, WB.
See all MBTPS2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-1843
Antibody Isotype
IgG1, k
Application
ELISA, IF, WB

Basic Information

Immunogen
Recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.Immunogen sequence: ASTLQQLSFP VRAYKRLDGS TECCNNHSLT DVCFSYRNNF NKRLHTCLPA RKAVEATQVC RTNKDCKKSS SSSFCIIPSL ETHTRLIKVK HPPQIDMLYV GHPLHLH
Specificity
Human
Antibody Isotype
IgG1, k
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 312-418

Target

Full Name
membrane-bound transcription factor peptidase, site 2
Introduction
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 has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.
Entrez Gene ID
51360
UniProt ID
O43462
Alternative Names
Membrane Bound Transcription Factor Peptidase, Site 2; Sterol Regulatory Element-Binding Proteins Intramembrane Protease; Membrane-Bound Transcription Factor Protease, Site 2; Keratosis Follicularis Spinulosa Decalvans; SREBPs Intramembrane Protease; Endopeptidase S2P; Site-2 Protease; EC 3.4.24.85
Function
Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:11163209, PubMed:10805775).

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 (PubMed:10805775, PubMed:27380894, PubMed:9659902).

Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902).

Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209).

Involved in intramembrane proteolysis during bone formation (PubMed:27380894).
Biological Process
ATF6-mediated unfolded protein response Source: ParkinsonsUK-UCL
Bone maturation Source: UniProtKB
Cholesterol metabolic process Source: ProtInc
Endoplasmic reticulum unfolded protein response Source: Reactome
Membrane protein intracellular domain proteolysis Source: ParkinsonsUK-UCL
Positive regulation of DNA-binding transcription factor activity Source: ParkinsonsUK-UCL
Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL
Regulation of cholesterol biosynthetic process Source: Reactome
Regulation of response to endoplasmic reticulum stress Source: GO_Central
Response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL
Cellular Location
Cytoplasm
Other locations
Membrane
Involvement in disease
IFAP syndrome 1, with or without Bresheck syndrome (IFAP1):
An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy.
Olmsted syndrome, X-linked (OLMSX):
A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes.
Keratosis follicularis spinulosa decalvans X-linked (KFSDX):
A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.
Osteogenesis imperfecta 19 (OI19):
An X-linked form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia.

Lim, P. J., Marcionelli, G., Srikanthan, P., Ndarugendamwo, T., Pinner, J., Rohrbach, M., & Giunta, C. (2023). Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta. Frontiers in Endocrinology, 14, 1195704.

Caengprasath, N., Nizon, M., Panchaprateep, R., Cogne, B., Cuinat, S., Auburt, H., ... & Shotelersuk, V. (2023). Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies. Journal of Dermatological Science, 112(3), 166-169.

Danyukova, T., Alimy, A. R., Velho, R. V., Yorgan, T. A., Di Lorenzo, G., von Kroge, S., ... & Pohl, S. (2023). Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage. Bone, 177, 116927.

Tibbo, A. J., Hartley, A., Vasan, R., Shaw, R., Galbraith, L., Mui, E., ... & Ahmad, I. (2023). MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer. British Journal of Cancer, 128(11), 1991-1999.

Migliavacca, M. P., Fock, R. A., Almeida, N., Cavalcanti, T., Villela, D., Perez, A. B. A., ... & Raskin, S. (2023). A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. Revista Paulista de Pediatria, 41, e2022057.

Strong, A., March, M. E., Cardinale, C. J., Kim, S. E., Merves, J., Whitworth, H., ... & Hakonarson, H. (2022). A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response. American Journal of Medical Genetics Part A, 188(2), 463-472.

Liu, Y., Xu, D., Wang, L., Du, W., Zhang, L., & Xiang, X. (2022). MBTPS2 exacerbates albuminuria in streptozotocin-induced type I diabetic nephropathy by promoting endoplasmic reticulum stress-mediated renal damage. Archives of physiology and biochemistry, 128(4), 1050-1057.

Caengprasath, N., Theerapanon, T., Porntaveetus, T., & Shotelersuk, V. (2021). MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. Journal of Translational Medicine, 19, 1-16.

Lim, P. J., Marfurt, S., Lindert, U., Opitz, L., Ndarugendamwo, T., Srikanthan, P., ... & Giunta, C. (2021). Omics profiling of S2P mutant fibroblasts as a mean to unravel the pathomechanism and molecular signatures of X-linked MBTPS2 osteogenesis imperfecta. Frontiers in Genetics, 12, 662751.

Jiang, Y., Jin, H., & Zeng, Y. (2019). A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome. Molecular Genetics & Genomic Medicine, 7(8), e812.

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For research use only. Not intended for any clinical use.

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