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FLASH GENE
Symbol CTGF contributors: mct/npt/pgu - updated : 15-03-2016
HGNC name connective tissue growth factor
HGNC id 2500
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in senescent prostatic epithelial cells and in fibrotic renal glomeruli
constitutional       gain of function
increased basal promoter activity in scleroderma fibroblasts
constitutional     --over  
in isolated cardiomyocytes, overexpression of CTGF induced hypertrophic growth
constitutional     --over  
in osteoarthritis (OA), highly expressed in OA synovial fibroblasts
Susceptibility
  • to systemic sclerosis
  • to nephropathy in type 1 diabetes
  • Variant & Polymorphism other -945G allele is significantly associated with susceptibility to systemic sclerosis
  • variants within the promoter region predisposes diabetic subjects to develop albuminuria and Samd1 controls the expression of CTGF promoter through this region
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ccn2 null mutant mice
  • chondrocytes isolated from Ccn2-/- mice exhibit impaired type II collagen, aggrecan expression, and ECM synthesis