FBN1

GENE INFORMATION

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Gene name

FBN1 (HGNC Symbol)

Synonyms

FBN, MASS, MFS1, OCTD, SGS, WMS

Description

Fibrillin 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]

Chromosome

15

Cytoband

q21.1

Chromosome location (bp)

48408306 - 48645849

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166147 (version 78.38)

Entrez gene

2200

UniProt

P35555 (UniProt - Evidence at protein level)

neXtProt

NX_P35555

Antibodypedia

FBN1 antibodies
 

PROTEIN VIEW

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FBN1-001
 
FBN1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FBN1-001 ENSP00000325527
ENST00000316623
P35555
Show all »
Show » Show » 2871 312.3 Yes 0
FBN1-002 ENSP00000453901
ENST00000560355
H0YN80
Show all »
Show » Show » 55 5.8 Yes 0