Neha Patil

Fibrillin 1

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Species  Human
Entrez  2200
Human  Mouse
Ensembl  ENSG00000166147
Fibrillin 1 httpsuploadwikimediaorgwikipediacommons99
Aliases  FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
External IDs  MGI: 95489 HomoloGene: 30958 GeneCards: FBN1

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.

Contents

FBN1 is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein 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.

Fibrillin 1 FBN1 gene Genetics Home Reference

Fibrillin-1 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.

Fibrillin 1 Fibrillin Pathway FBN1 and Marfan Syndrome

Description

Fibrillin 1 Fibrillin 1 Wikipedia

The sequence of fibrillin-1 includes 47 six-cysteine EGF-like domains, 7 eight-cysteine domains homologous with latent TGF-beta binding protein, and a proline-rich region.

Clinical significance

Fibrillin 1 Marfan Syndrome GGCWiki

Mutations in the FBN1 gene are associated with Marfan syndrome and its variant Marfan lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome.

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .

References

Fibrillin 1 Wikipedia


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