FBN1 (Entrez ID: 2200)

Entrez Gene ID 2200
Official Gene Symbol FBN1 (GeneCards)
Full name fibrillin 1
Location 15q21.1
Other ids Vega : OTTHUMG00000172218
MIM : 134797
HGNC : HGNC:3603
Ensembl : ENSG00000166147
Other names 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]

Variants

Found 7 variants in this database.