NP_000129.3
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
312,237 Da
NCBI Official Full Name
fibrillin-1
NCBI Official Synonym Full Names
fibrillin 1
NCBI Official Synonym Symbols
FBN; SGS; WMS; MASS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2 [Similar Products]
NCBI Protein Information
fibrillin-1
UniProt Protein Name
Fibrillin-1
UniProt Synonym Gene Names
UniProt Entry Name
FBN1_HUMAN
NCBI Summary for Fbn1
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate a mature 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. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, and Shprintzen-Goldberg syndrome. [provided by RefSeq, Oct 2015]
UniProt Comments for Fbn1
FBN1: a large, extracellular matrix glycoprotein of the fibrillin family that serves as a structural component of 10-12 nm calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1- containing microfibrils provide long-term force bearing structural support in elastic and nonelastic connective tissue throughout the body. May regulate osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Defects in this protein are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. Interacts with COL16A1.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 15q21.1
Cellular Component: basement membrane; extracellular matrix; extracellular region; extracellular space; microfibril; proteinaceous extracellular matrix
Molecular Function: calcium ion binding; extracellular matrix constituent conferring elasticity; extracellular matrix structural constituent; integrin binding; protein binding; protein complex binding
Biological Process: camera-type eye development; embryonic eye morphogenesis; extracellular matrix disassembly; extracellular matrix organization and biogenesis; heart development; metanephros development; post-embryonic eye morphogenesis; skeletal development
Disease: Acromicric Dysplasia; Ectopia Lentis 1, Isolated, Autosomal Dominant; Geleophysic Dysplasia 2; Marfan Syndrome; Mass Syndrome; Stiff Skin Syndrome; Weill-marchesani Syndrome 2
Research Articles on Fbn1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with Fbn1 elisa kit
Pathways associated with Fbn1 elisa kit
Diseases associated with Fbn1 elisa kit
Organs/Tissues associated with Fbn1 elisa kit
|