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Concept information

Preferred term

Fibrillin-1  

Type

  • mesh:Descriptor

Definition

  • A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME.

Broader concept

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URI

http://data.loterre.fr/ark:/67375/JVR-QHDV629L-P

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RDF/XML TURTLE JSON-LD Created 7/8/16, last modified 4/15/16