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GENATLAS PHENOTYPE
last update : 27/07/2006
Symbol MFS2
Location 3p24.1
Name Marfan syndrome 2
Other name(s) Marfan-like connective tissue
Corresponding gene TGFBR2
Main clinical features
  • mild ocular anomaly, infrequent dural ectasia and pulmonary abnormalities but prominent aortic and skeletal anomalies
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name transforming growth factor, beta receptor II
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation in the serine-kinase domain
    Remark(s)