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Spondyloepiphyseal dysplasia tarda X-linked

Other Names for this Disease
  • SED
  • Spondyloepiphyseal dysplasia tarda
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
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What causes X-linked spondyloepiphyseal dysplasia tarda?

This condition is caused by mutations in the TRAPPC2 gene (sometimes called the SEDL gene), which is located on the X chromosome. The TRAPPC2 gene provides instructions for producing a protein called sedlin. The function of this protein is unclear. Researchers believe that sedlin is part of a larger protein complex, which helps transport proteins between various cell organelles. Mutations in TRAPPC2 affect how the sedlin protein is made, which ultimately affects bone growth.[1]
Last updated: 5/10/2011

  1. X-linked spondyloepiphyseal dysplasia tarda. Genetics Home Reference (GHR). June 2008; Accessed 5/10/2011.