YBR254C

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Systematic name YBR254C
Gene name TRS20
Aliases
Feature type ORF, Verified
Coordinates Chr II:724258..723731
Primary SGDID S000000458


Description of YBR254C: One of 10 subunits of the transport protein particle (TRAPP) complex of the cis-Golgi which mediates vesicle docking and fusion; mutations in the human homolog cause the spondyloepiphyseal dysplasia tarda (SEDL) disorder[1][2][3]




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References

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  1. Sacher M, et al. (2000) Identification and characterization of five new subunits of TRAPP. Eur J Cell Biol 79(2):71-80 SGD PMID 10727015
  2. Sacher M, et al. (2001) TRAPP I implicated in the specificity of tethering in ER-to-Golgi transport. Mol Cell 7(2):433-42 SGD PMID 11239471
  3. Tiller GE, et al. (2001) A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet 68(6):1398-407 SGD PMID 11326333

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