FBN3

Gene Information
 
Gene Symbol
FBN3
 
Entrez Gene ID
 
Gene Name
Fibrillin 3
 
Chromosomal Location
19p13
 
HGNC ID
 
Summary
This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
D19S884
20200332
Protein Information
 
Protein Name
KIAA1776 , fibrillin-3 , fibrillin 3
 
Function
Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00008 EGF EGF-like domain
PF00683 TB TB domain
PF07645 EGF_CA Calcium-binding EGF domain
PF12662 cEGF Complement Clr-like EGF-like
 
OMIM
 
Interactions

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 23265956, 22301903, 20630504, 20855553, 20200332, 17785364, 19692420, 19692420
   
References
 
Primary:

Family-based analysis of candidate genes for polycystic ovary syndrome.

Ewens Kathryn G, Stewart Douglas R, Ankener Wendy, Urbanek Margrit, McAllister Jan M, Chen Chen, Baig K Maravet, Parker Stephen C J, Margulies Elliot H, Legro Richard S, Dunaif Andrea, Strauss Jerome F 3rd, Spielman Richard S
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
J Clin Endocrinol Metab. 2010 May;95(5):2306-15. Epub 2010 Mar 3.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
NIH criteria 
Related 
173 PCOS patients and 194 controls 
The study concludes that FBN3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs and that this may be influencing the PCOS phenotype. 
FBN1, FBN2, LTBP-1, LTBP-2, D19S884 
 
 
NIH criteria 
Related 
367 (173 PCOS, 194 controls) 
FBN3 may or may not play a minor role in PCOS pathogenesis 
 
 
variants in the D19S884  
Rotterdam criteria 
Direct 
272 PCOS women and 271 controls 
Association of the D19S884 marker with PCOS identified that A8 may increase susceptibility to PCOS 
 
 
 
Rotterdam criteria 
Direct 
21 controls and 9 patients with PCOS  
Loss of fibrillin-3 during folliculogenesis may be an important factor in PCOS pathogenesis 
 
 
varient in gene 
PCOS was diagnosed by a history of six or fewer menses per year and elevated levels of total testosterone or non-SHBG-bound testosterone (uT)  
Direct 
601 women with PCOS and 168 brothers of affected women 
These findings strongly suggest that A8 of D19S884 is the chromosome 19p13.2 PCOS susceptibility locus. The association of D19S884 with markers of insulin resistance and pancreatic beta-cell dysfunction suggests that the same variant contributes to the reproductive and metabolic abnormalities of PCOS in affected women and their brothers. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26023291, PMC4438088
Electrophoretic Techniques for the Detection of Human Microsatellite D19S884. 
In vitro 
24878041, PMC4121025
Parent-of-origin effects on glucose homeostasis in polycystic ovary syndrome. 
Clinical study 
23980058
Dehydroepiandrosterone induces ovarian and uterine hyperfibrosis in female rats. 
Effect of treatment 

 

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