FBN1
Sign in to saveAlso known as ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves 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 altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.
Gene data
FBN1- Name
- fibrillin 1
- Type
- protein-coding
- Aliases
- ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is 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. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016].
via MyGene.info
Gene · Ensembl
fibrillin 1
- Symbol
- FBN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 15:48,408,016-48,645,791
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein FBN1 PDB 1apj.png
Show 7 more facts
- HomoloGene ID
- 30958
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2200
- genomic start
- 48408313
- chromosome
- human chromosome 15
- genomic end
- 48645721
- cytogenetic location
- 15q21.1
via Wikidata · CC0
~14 min read
Encyclopedic overview
14 sectionsContents
- Gene
- Structure
- Function
- Fetal cardiovascular development
- Clinical significance
- Mutations
- Marfan syndrome
- Role of TGF-β
- Losartan
- See also
- Notes
- References
- Further reading
- External links
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves 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 altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.
== Gene == FBN1 is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin convertase to give fibrillin-1, a member of the fibrillin family, and the 140-amino-acid long protein hormone asprosin.
Excerpted from Wikipedia’s “FBN1” article, available under the CC BY-SA 4.0 licence.