Difference between revisions of "YBR254C"
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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<ref name=' | + | '''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<ref name='S000043703'>Sacher M, et al. (2000) Identification and characterization of five new subunits of TRAPP. Eur J Cell Biol 79(2):71-80 {{SGDpaper|S000043703}} PMID 10727015</ref><ref name='S000060118'>Sacher M, et al. (2001) TRAPP I implicated in the specificity of tethering in ER-to-Golgi transport. Mol Cell 7(2):433-42 {{SGDpaper|S000060118}} PMID 11239471</ref><ref name='S000080229'>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 |
| − | {{SGDpaper| | + | {{SGDpaper|S000080229}} PMID 11326333</ref> |
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Revision as of 13:05, 31 March 2009
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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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- ↑ 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
- ↑ 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
- ↑ 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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