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]

  • Skeletal system development
  • Metanephros development
  • Kidney development
  • Signal transduction
  • Heart development
  • Marfan syndrome
  • Stiff skin syndrome
  • Acromicric dysplasia
  • Marfanoid-progeroid-lipodystrophy syndrome
  • Geleophysic dysplasia 2
  • General Aortopathy
  • Marfan Syndrome
  • Familial Aortic Aneurysm
  • Aortic Valve Disease

Based on Ayass Bioscience, LLC Data Analysis

Emw. Structure of the FBN1 protein. Based on PyMOL rendering of PDB 1apj.

Gene Location

Pathogenic Prevalence

% 0.0510725229826353

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.102145045965271

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

T=0.000004(1/251284,GnomAD_exome)
T=0.000008(1/125568,TOPMED)
T=0.000008(1/121284,ExAC)
T=0.0002(1/5008,1000G)
T=0.0000(0/2188,ALFAProject)

High/Med VUS Variants

T=0.000012(3/251214,GnomAD_exome)
T=0.000024(3/125568,TOPMED)
T=0.000008(1/121188,ExAC)
T=0.00008(1/12988,GO-ESP)
T=0.0000(0/2188,ALFAProject)

C=0.000203(51/251432,GnomAD_exome)
C=0.000342(43/125568,TOPMED)
C=0.000181(22/121398,ExAC)
C=0.00079(62/78702,PAGE_STUDY)
C=0.00019(6/31400,GnomAD)
C=0.00031(4/12988,GO-ESP)
C=0.00018(2/11176,ALFAProject)
C=0.0013(5/3854,ALSPAC)
C=0.0008(3/3708,TWINSUK)
C=0.001(1/998,GoNL)
C=0.002(1/534,MGP)