Article
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.
The Journal of biological chemistry - 20 Dec 2002
Jang Se Bok, Kim Yeon-Gil, Cho Yong-Soon, Suh Pann-Ghill, Kim Kyung-Hwa, Oh Byung-Ha
Abstract excerpt
SEDL is an evolutionarily highly conserved protein in eukaryotic organisms. Deletions or point mutations in the SEDL gene are responsible for the genetic disease spondyloepiphyseal dysplasia tarda (SEDT), an X-linked skeletal disorder. SEDL has been identified as a component of the transport protein particle (TRAPP), critically involved in endoplasmic reticulum-to-Golgi vesicle transport. Herein, we report the...
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