FBN1
FBN1 (fibrillin 1) encodes a member of the fibrillin family. The preproprotein is processed into the extracellular matrix glycoprotein fibrillin-1, a structural component of calcium-binding microfibrils, and the adipokine hormone asprosin. Browse Assay Genie's current range of FBN1 research reagents below, or read on for the biology behind the target.
The FBN1 gene encodes a preproprotein that is proteolytically processed into two products. One is fibrillin-1, an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. The other product is asprosin, a protein hormone, so the FBN1 gene underlies both a structural and an endocrine role.
Asprosin is an adipokine secreted by white adipose tissue that regulates glucose metabolism in liver, muscle and pancreas. It acts as a hormone that targets the liver in response to fasting, raising plasma glucose. It binds the olfactory receptor OR4M1 on hepatocytes and activates protein kinase A activity, which drives rapid glucose release into the circulation. Asprosin may also regulate adaptive thermogenesis by inhibiting browning and energy consumption while increasing lipid deposition in white adipose tissue.
Asprosin also acts as an orexigenic hormone. It crosses the blood brain barrier and, in the arcuate nucleus of the hypothalamus, directly activates AgRP neurons and indirectly inhibits POMC neurons, stimulating appetite. Activation of AgRP neurons occurs through OR4M1, which may also mediate a role in sperm motility in testis. FBN1 belongs to the fibrillin family, alongside FBN2, and the protein was formerly named fibrillin 1 (Marfan syndrome). Mutations in the gene are associated with Marfan syndrome and the related MASS phenotype, ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. Aliases include MASS, OCTD, SGS, FBN, MFS1 and WMS. The mouse ortholog is Fbn1.
Fibrillin-1 forms calcium-binding microfibrils that give force-bearing structural support to elastic and nonelastic connective tissue throughout the body.
Mutations in FBN1 are associated with Marfan syndrome and the related MASS phenotype, making the gene central to studies of these disorders.
Asprosin, derived from FBN1, is secreted by white adipose tissue and regulates glucose metabolism in liver, muscle and pancreas.
Asprosin crosses the blood brain barrier and activates orexigenic AgRP neurons in the hypothalamus, stimulating appetite via OR4M1.
FBN1 encodes a preproprotein cleaved into fibrillin-1 and asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that forms calcium-binding microfibrils supporting connective tissue. Asprosin is an adipokine hormone that raises plasma glucose through OR4M1 on hepatocytes and stimulates appetite through hypothalamic AgRP neurons.
FBN1 is also known as fibrillin 1, formerly fibrillin 1 (Marfan syndrome), with aliases MASS, OCTD, SGS, FBN, MFS1 and WMS. The preproprotein yields two products: the matrix component fibrillin-1 and the hormone asprosin, which is why both names appear in the literature.
Mutations in FBN1 are associated with Marfan syndrome, the MASS phenotype, ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. The mouse ortholog is Fbn1; check the datasheet of any product for its validated reactivity.
Another fibrillin family member with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P35555; product specifications from Assay Genie datasheets.