Fibrillin 1

Alternative Names

  • FBN1
  • Fibrillin
  • FBN
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OMIM Number

134797

NCBI Gene ID

2200

Uniprot ID

P35555

Length

237,544 bases

No. of Exons

66

No. of isoforms

1

Protein Name

Fibrillin-1

Molecular Mass

312298 Da

Amino Acid Count

2871

Genomic Location

chr15:48,408,306-48,645,849

Gene Map Locus
15q21.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000138.4:c.5117G>AAlgeriaNC_000015.10:g.48463189C>TLikely PathogenicGeleophysic Dysplasia 1NG_008805.2:g.187600G>A; NM_000138.4:c.5117G>A; NP_000129.3:p.Cys1706Tyr
NM_000138.4:c.5157C>GLebanonNC_000015.10:g.48463149G>CLikely PathogenicGeleophysic Dysplasia 1NG_008805.2:g.187640C>G; NM_000138.4:c.5157C>G; NP_000129.3:p.Cys1719Trp2043292643
NM_000138.4:c.5182G>AIraqNC_000015.10:g.48463124C>TPathogenicGeleophysic Dysplasia 1NG_008805.2:g.187665G>A; NM_000138.4:c.5182G>A; NP_000129.3:p.Ala1728Thr38790662429698
NM_000138.4:c.7713T>GLebanonchr15:48420793PathogenicMarfan SyndromeNG_008805.2:g.229996T>G; NM_000138.4:c.7713T>G; NP_000129.3:p.Cys2571Trp
NM_000138.5:c.2051G>ASaudi ArabiaNC_000015.10:g.48503849C>TPathogenicGeleophysic Dysplasia 2NG_008805.2:g.146940G>A; NM_000138.5:c.2051G>A; NP_000129.3:p.Cys684Tyr1555399763854113
NM_000138.5:c.2626_2634delSaudi ArabiaNC_000015.10:g.48495167_48495175delLikely PathogenicMarfan SyndromeNG_008805.2:g.155615_155623del; NM_000138.5:c.2626_2634del; NP_000129.3:p.Cys876_Ser878del
NM_000138.5:c.5096A>GPalestineNC_000015.10:g.48463210T>CPathogenicGeleophysic Dysplasia 2NG_008805.2:g.187579A>G; NM_000138.5:c.5096A>G; NP_000129.3:p.Tyr1699Cys38790662229696
NM_000138.5:c.6872-1G>ASaudi ArabiaNC_000015.10:g.48428472C>TPathogenicMarfan SyndromeNG_008805.2:g.222317G>A; NM_000138.5:c.6872-1G>A1597518951
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