Gene: FBN1
Alternate names for this Gene: ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2
Gene 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.
Gene is located in Chromosome: 15
Location in Chromosome : 15q21.1
Description of this Gene: fibrillin 1
Type of Gene: protein-coding
Gene: LOC105370809
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1566944839 in
FBN1;LOC105370809 gene and
Familial thoracic aortic aneurysm and aortic dissection
PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.
PMID 19012347 2008 The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
PMID 27906200 2017 Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
PMID 16677079 2006 Fibrillin-1 misfolding and disease.
PMID 19159394 2009 Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.
rs1566944839 in
FBN1;LOC105370809 gene and
Marfan Syndrome
PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
PMID 19159394 2009 Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.
PMID 16677079 2006 Fibrillin-1 misfolding and disease.
PMID 19012347 2008 The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
PMID 27906200 2017 Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.