NP_000129.3
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NCBI GenBank Nucleotide #
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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; fibrillin 15
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. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm 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, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]
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; Secreted, signal peptide; Extracellular matrix
Chromosomal Location of Human Ortholog: 15q21.1
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; microfibril; extracellular region; basement membrane
Molecular Function: protein binding; extracellular matrix structural constituent; calcium ion binding
Biological Process: extracellular matrix disassembly; extracellular matrix organization and biogenesis; heart development; skeletal development; metanephros development
Disease: Ectopia Lentis 1, Isolated, Autosomal Dominant; Mass Syndrome; Weill-marchesani Syndrome 2; Stiff Skin Syndrome; Acromicric Dysplasia; Marfan Syndrome; Geleophysic Dysplasia 2
Research Articles on FBN1
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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
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