| Gene Symbol | FBN1 |
| Entrez Gene ID | 2200 |
| Full Name | fibrillin 1 |
| Synonyms | ACMICD,ECTOL1,FBN,GPHYSD2,MASS,MFLS,MFS1,OCTD,SGS,SSKS,WMS,WMS2 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Marfan syndrome, 154700 (3); Marfan lipodystrophy syndrome, 616914 (3); Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3) |
User Manual
