TRAPPC2

The TRAPPC2 gene provides instructions for producing the protein sedlin, which is active (expressed) in cells throughout the body. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). It is thought that sedlin is located between two organelles, the endoplasmic reticulum and the Golgi apparatus. The endoplasmic reticulum is involved in protein processing and transport, and the Golgi apparatus modifies newly produced proteins. How sedlin participates in the movement of proteins between these two organelles is unknown.

X-linked spondyloepiphyseal dysplasia tarda - caused by mutations in the TRAPPC2 gene

At least 40 mutations in the TRAPPC2 gene have been found to cause X-linked spondyloepiphyseal dysplasia tarda. Most of these mutations delete one or more DNA building blocks (nucleotides) in the TRAPPC2 gene. All of the mutations result in a nonfunctional sedlin protein. Because sedlin is expressed throughout the body, it is unclear why mutations in the TRAPPC2 gene affect only bone growth.