rs144710695
This variant is located in the FBN1 gene.
▶ClinVar annotation
Familial thoracic aortic aneurysm and aortic dissection; Geleophysic dysplasia; Stiff skin syndrome; Marfan syndrome; Acromicric dysplasia; Weill-Marchesani syndrome; Ectopia lentis 1, isolated, autosomal dominant
View on ClinVar →About FBN1
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]
View all FBN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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