FBN1 fibrillin 1

Gene ID: 2200, updated on 11-Apr-2024
Gene type: protein coding
Also known as: FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. GeneReviews: Not available
Acromicric dysplasia MedGen: C0265287OMIM: 102370GeneReviews: Not available	See labs
Ectopia lentis 1, isolated, autosomal dominant MedGen: C3541518OMIM: 129600GeneReviews: Not available	See labs
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview	See labs
Geleophysic dysplasia 2 MedGen: C3280054OMIM: 614185GeneReviews: Geleophysic Dysplasia	See labs
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. GeneReviews: Not available
Marfan syndrome MedGen: C0024796OMIM: 154700GeneReviews: FBN1-Related Marfan Syndrome	See labs
MASS syndrome MedGen: C1858556OMIM: 604308GeneReviews: Not available	See labs
Progeroid and marfanoid aspect-lipodystrophy syndrome MedGen: C4310796OMIM: 616914GeneReviews: Not available	See labs
Stiff skin syndrome MedGen: C1861456OMIM: 184900GeneReviews: Not available	See labs
Weill-Marchesani syndrome 2, dominant MedGen: C1869115OMIM: 608328GeneReviews: Weill-Marchesani Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-12-04) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-04) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 15q21.1

Sequence:: Chromosome: 15; NC_000015.10 (48408313..48645709, complement)

Total number of exons:: 68

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FBN1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FBN1 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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