Search on: FIBRILLIN-1 
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Descriptor English:   Fibrillin-1 
Descriptor Spanish:   fibrilina-1 
Descriptor Portuguese:   Fibrilina-1 
Synonyms English:   Fibrillin 1
Profibrillin 1
Profibrillin-1  
Tree Number:   D09.400.430.875.500
D12.776.395.341.500
D12.776.860.300.400.500
Definition English:   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 English:   2017; use FIBRILLIN 1985-2016 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   56520 
Unique Identifier:   D000071838 

Occurrence in VHL:
 

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