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Gene : FBLN5 Homo sapiens

Name  ? fibulin 5 Cytological Location  14q32.12
Brief Description  fibulin 5
Description  The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
  • synonyms:
  • EVEC,
  • embryonic vascular EGF-like repeat-containing protein,
  • DANCE,
  • ARMD3,
  • uc001xzx.5,
  • UP50,
  • AJ133490,
  • ADCL2,
  • FBLN5,
  • NM_006329,
  • ARCL1A,
  • DANCE,
  • UP50,
  • EVEC,
  • developmental arteries and neural crest EGF-like,
  • HGNC:3602,
  • HNARMD,
  • ARMD3,
  • FIBL-5,
  • OTTHUMG00000171122
  • identifiers:
  • 10516,
  • ENSG00000140092,
  • FBLN5

Genome feature

Region: gene ? Length: 78292  
Location: 14:91869411-91947702 reverse strand Cyto location: 14q32.12


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Disease

3 Diseases

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268 SN Ps

5 Cross References

19 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results