A novel human gene FKBP6 is deleted in Williams syndrome.

  title={A novel human gene FKBP6 is deleted in Williams syndrome.},
  author={Xiangming Meng and Xian Jun Lu and Colleen A. Morris and Mark T. Keating},
  volume={52 2},
Williams syndrome (WS) is a developmental disorder caused by haploinsufficiency of genes at 7q11.23. We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis. We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. Here we identify and characterize a novel gene, FKBP6, within the common WS deletion region. FKBP6 shows homology to the FK-506 binding protein (FKBP… CONTINUE READING


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