形式 |
The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene.
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復(fù)溶 |
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. Jeyabalan J, et al. PLoS One, 2010 May 14. PMID 20498720.Interaction of Sedlin with PAM14. Liu X, et al. J Cell Biochem, 2010 Apr 15. PMID 20108251.A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. Xia XY, et al. Clin Chim Acta, 2009 Dec. PMID 19766614.Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732.A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. Guo H, et al. J Genet, 2009 Apr. PMID 19417549.
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