Fibrillin-1 Antibodies

Fibrillin-1 (FBN1)

Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which communicates both regulatory and structural attributes to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1- containing microfibrils provide long-term pressure bearing structural support.

In tissues like the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. Additionally, microfibrils can happen as elastin-independent networks in tissues like the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring functions.

Gene Information

Human
Gene Name:	FBN1
Uniprot:	P35555
Entrez:	2200

Family

Belongs to:
fibrillin family

Alternative Names

ACMICD; Asprosin; FBN; FBN1; fibrillin 1 (Marfan syndrome); Fibrillin 1; fibrillin 15; fibrillin-1; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2

Molecular Weight

Mass (kDA):
312.298 kDA

Genomic Context

Human
Location:	15q21.1
Sequence:	15; NC_000015.10 (48408313..48645709, complement)

Subcellular Localizations

Secreted. Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).; [Asprosin]: Secreted. Secreted into the plasma.; [Fibrillin-1]: Secreted, extracellular space, extracellular matrix.

Diseases

• Marfan Syndrome
• Connective Tissue Diseases
• Aneurysm
• Ectopia Lentis
• Aortic Aneurysm
• Congenital Ectopia
• Pathological Dilatation
• Aortic Aneurysm, Thoracic
• Arachnodactyly
• Dissection Of Aorta
• Aortic Dilatation
• Loeys-dietz Syndrome
• Aneurysm, Dissecting

• Blepharoptosis
• Mitral Valve Prolapse Syndrome
• Marfanoid Joint Hypermobility Syndrome
• Haploinsufficiency
• Cardiac Complication
• Congenital Contractural Arachnodactyly
• Aortic Diseases

Interacting Proteins

• EFEMP2
• FBLN5
• FBN2
• FN1
• LOX

Pathways

• Pathogenesis
• Secretion
• Localization
• Aging
• Translation
• Osteoblast Differentiation
• Dna Methylation
• Glycosylation
• Dna Amplification
• Tissue Homeostasis
• Proteolysis
• Membrane Depolarization
• Methylation

• Bone Mineralization
• Cell Proliferation
• Transport
• Muscle Contraction
• Vasoconstriction
• Rna Splicing
• Tissue Remodeling

PTMs

• Cleavage
• Phosphorylation
• Glycosylation
• Methylation
• Reduction

• Hydroxylation
• Deacetylation
• Acetylation
• Dephosphorylation
• Ubiquitination

Research Areas

• Extracellular Matrix

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/FBN1

Best Uses Of The FBN1 Marker

The FBN1 gene contains instructions for the production of a large protein called fibrillin-1. This protein is then released from the cell and into extracellular matrix. Fibrillin-1 molecules are attached to other proteins to form threadlike fibrils called microfibrils. These microfibrils help skin and ligaments to stretch, and provide support for other rigid tissues.

TGCTs

TGCT was previously identified by us as one of most common tumor-associated variants. TGCT has high aneuploidy, frequent gene doubling, and the highly conserved 12p Isochromosome. PPP2R5A (a Ser/Thr phosphatase, involved in chromosome–spindle interactions) was also identified as a candidate TGCT gene.

We identified many genes that are involved with TGCT development in this study. Six eQTLs were identified which are responsible for downregulation the TEX14 Gene. These genes are responsible for the expression of many proteins that are involved in male germ cell growth. Additionally, we identified a variety of TGCT-implicated proteins which interact with these genes. TGCTs could disrupt the development of chromosomes and cause androgen insensitivity in male germ cell cells.

Our results suggest that TGCT susceptibility can be strongly correlated to the presence of a single variant gene in the testis. Many of these variants map directly to gene loci that encode proteins and other critical pathways such as DNA replication or chromosome structure. We conclude that the TGCT gene variants that are associated with increased risk of developing the cancer may be linked to multiple genes, including the TGCT gene, which is highly conserved in the human genome.

Patients with TGCTs can communicate with one another via Facebook. Patients can also find support groups for their condition via Facebook. The PVNS's Pants! The largest TGCT support group on Facebook is the PVNS. Patients can share their daily experiences, ask for advice from other TGCT patients and comment on each other's posts. Many TGCT patients shared their willingness to take part in research and studies.

These studies were funded by the Abramson Cancer Center of Penn, NIH grant NIH 114478, and a number of funding organisations, including Robert E. and May R. Wright Foundation and California Cancer Research Program. We thank all the participants who generously donated to this research project. And we thank our collaborators for their support. With these new findings, we hope to improve lives for people living with the disease.

Microfibrils

The FBN1 marker provides information about the production and use of fibrillin-1. The protein is transferred from cells to the extracellular matrix. This complex lattice of proteins forms between the cells. Fibrillin-1 proteins attach to other proteins to create threadlike filaments called microfibrils. These filaments provide support for rigid tissues like tendons and skin.

As a biomarker, the FBN1 marker is used to study various diseases and disorders. Boster Bio's ELISA kit detects FBN1 in cancer, inflammation and developmental biology. The kits have a picogram level detection. Boster Bio provides its immunological reagents via tebubio. This biomarker is widely utilized in various fields like cancer, neuroscience, inflammation and developmental biology.

Fibrillins are involved with the pathogenesis many cancers. Fibrillins, which are the main constituents microfibrils of the extracellular matrix, play an important role during cancer pathogenesis. They are also responsible for maintaining pluripotency in embryonic stem cells. FBN1 expression was assessed in GCNIS tumor tissues and adjacent non-neoplastic testicular tissue. FBN-1 detection markers were goat polyclonal antibodies and a multiplicative quicklyscore.

It is important to note, when assessing the expression of FBN-1 it is important that only cancers arising from germ cell tissue have the highest levels. This category is home to the majority of cancers. They have higher levels FBN-1 levels than other categories. FBN-1 overexpression is also common in cancers of the testis and genital tract. Consequently, a single biopsy is not enough to determine if FBN-1 is present in these tumours.

Expression of Aurora Kinases

The FBN1 marker has been identified as a new biomarker for the expression of Aurora kinases. The gene is expressed in many types of cancer cells, including breast, prostate, ovarian and lung. FBN1 can also be used as a biomarker to monitor the expression of a number of other kinases. Researchers in a variety opportunistic settings are currently using the FBN1 biomarker, including in cancer research.

FBN1 is a marker that may help to detect tumor cells. The expression of Aurora kinases (an important aspect of ovarian and ovarian cancer) is an important factor. This biomarker may have many applications in cancer research, including the prediction of survival from high grade serous ovarian tumors. FBN1 has been shown to predict survival for patients with high-grade serous cancer.

FBN1 is a marker that can be used to screen the expression and progression of breast cancer genes. FBN1 is also a gene that regulates several proteins. FBN1 shRNA has been generated against the open-reading frame of BRCA2 (Aurora-A). It was then added to pBabe/U6 neomycin.

Analyzing the methylation status for the FBN1 gene promoter can help identify cancerous tissues. FBN1 overexpression might indicate early ovarian-cancer recurrences and sensitivity of platinum-based chemotherapy. FBN1's role in ovarian cancer metastasis is still unclear. It could be a biomarker that can help with cancer metastasis.

Marfan syndrome has the FBN1 mutation. This mutation results in a dysfunctional fibrillin protein. The FBN1 gene has been linked to ocular and cardiac problems. Its function in this disease is unclear, but it has been implicated in heart and lung development. It is therefore important to understand how the FBN1 gene regulates the Aurora kinases.

Regulation of FBN1 expression

FBN1 regulation could play a role at ECM remodeling, which is a process that involves the synthesis elastic fibers. It may also be involved post-translational modifications that regulate the function other ECM proteins. This study provides an overview about the gene and its function. These results suggest that FBN1 is an important regulator for a variety biochemical processes, including arterial thrombosis and aortic dilation.

The translation was inhibited by the knockdown of MFAP4. The knockdown of MFAP4 resulted in an increase of FBN1 and elastin expression, but decreased versican expression. MFAP4 was also involved in the increased expression of elastin and FBN1.

Previous research has indicated that FBN1 is involved with the bioavailability TGFb. An increase in TGFb signaling can be caused by defective FBN1 production, leading to aortic dilatation or aneurysm formation. Losartan was an ACE inhibitor and had no effect on MFS symptoms when it was added to standard b-blocker treatment. However, it is still necessary for patients with MFS to understand the downstream effects from defective FBN1.

Marfan syndrome can also be linked to mutations in FBN1. FBN1, which is a part of the extracellular matrix, is glycosylated. Studies of the glycoproteome of aortic tissue revealed that knockdown of MFAP4 increased FBN1 expression and decreased elastin expression. Further studies are needed in order to identify the mechanism behind the higher expression of FBN1 & MFAP4 by MFS patients.