YBR254C
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Systematic name | YBR254C | |
Gene name | TRS20 | |
Aliases | ||
Feature type | ORF, Verified | |
Coordinates | Chr II:724258..723731 | |
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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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- ↑ 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
- ↑ 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
- ↑ 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
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