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GENATLAS PHENOTYPE
last update : 03-02-2010
Symbol FSGS5
Location 14q32.33
Name focal segmental glomerulosclerosis 5
Corresponding gene INF2
Main clinical features
  • proteinuria, nephrotic syndrome with focal segmental glomerulosclerosis, leading to progressive renal failure
  • associated in any cases with an intermediate form of Charcot–Marie–Tooth neuropathy (PMID: 22187985))
    • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function in the INF2 gene (Brown 2010)
    Remark(s) . alterations in this podocyte-expressed formin emphasizes the importance of fine regulation of actin polymerization in podocyte function (Brown 2010)
  • INF2 mutants perturbed the INF2–MAL–CDC42 pathway, resulting in cytoskeleton disorganization, enhanced INF2 binding to CDC42 and mislocalization of INF2, MAL, and CDC42 (PMID: 22187985))