Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Spondyloepiphyseal dysplasia tarda X-linked


Other Names for this Disease
  • SED
  • Spondyloepiphyseal dysplasia tarda
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause


Newline Maker

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

References
  1. X-linked spondyloepiphyseal dysplasia tarda. Genetics Home Reference (GHR). June 2008; http://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda. Accessed 5/10/2011.