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Concept information

Preferred term

Fibrillin-1  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Profibrillin 1

Scope note

  • 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.

History note

  • 2017; use FIBRILLIN 1985-2016

In other languages

URI

http://www.yso.fi/onto/mesh/D000071838

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