🧬 基因注释：FBN1

官方名称：fibrillin 1

功能摘要：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].

• FUS 综合评分: 0.362 · 证据 1 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• fus 综合评分: 0.362 · 证据 1 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• Tardbp 综合评分: 0.274 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CSTF2 综合评分: 0.248 · 证据 2 条
• MSI1 综合评分: 0.248 · 证据 1 条
• GRSF1 综合评分: 0.212 · 证据 2 条
• Mbnl2 综合评分: 0.200 · 证据 1 条
• Rnps1 综合评分: 0.198 · 证据 1 条
• Rbpms 综合评分: 0.162 · 证据 1 条

该基因暂无关联疾病记录