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FLASH GENE
Symbol LTBP4 contributors: mct/npt - updated : 31-03-2015
HGNC name latent transforming growth factor beta binding protein 4
HGNC id 6717
ASSOCIATED DISORDERS
corresponding disease(s) CPVS , ARCL1C
Susceptibility
  • to Abdominal Aortic Aneurysm
  • to variation of age of ambulatory loss in Duchenne muscular dystrophy
  • Variant & Polymorphism SNP
  • significant association with the LTBP4 21011A>T genotype in Abdominal Aortic Aneurysm (Thompson 2009)
  • in Duchenne muscular dystrophy, individuals homozygous for the IAAM LTBP4 haplotype remained ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    potential therapeutic target for elastic fiber regeneration
    ANIMAL & CELL MODELS
  • mice deficient in Ltbp4 display a defect in lung septation and elastogenesis