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
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D000071838
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