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Trafficking protein particle complex 2

SEDL, SEDT, sedlin
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. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: CAN, AGE, POLYMERASE, Barrel, HAD
Papers on SEDL
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Huang et al., Guiyang, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Aug 2015
OBJECTIVE: To identify potential mutation of TRAPPC2 gene in a Chinese family affected with X-linked spondyloepiphyseal dysplasia tarda (X-SEDL), and explore its underlying molecular mechanism.
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.
Xia et al., Beijing, China. In Joint Bone Spine, Mar 2015
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene.
Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
Takahashi et al., Akita, Japan. In Pediatr Int, 2014
X-linked SEDT is caused by mutations in the gene TRAPPC2, which is located on chromosome Xp22.
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
Zhao et al., Lanzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014
OBJECTIVE: To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).
[Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family].
Luo et al., Zhengzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014
OBJECTIVE: X-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by mutations of SEDL gene, which usually onset in late childhood without systemic complications.
Trs20 is required for TRAPP III complex assembly at the PAS and its function in autophagy.
Segev et al., Chicago, United States. In Traffic, 2014
Interestingly, mutations in the human functional ortholog of Trs20, Sedlin, cause spondyloepiphyseal dysplasia tarda (SEDT), a cartilage-specific disorder.
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
Li et al., Nanjing, China. In Genet Mol Res, 2013
The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree.
Aberrant and alternative splicing in skeletal system disease.
Tang et al., Chongqing, China. In Gene, 2013
On the one hand, splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP5.
A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
Sacher et al., Montréal, Canada. In Traffic, 2013
Mutations in the mammalian TRAPP protein C2 are linked to the skeletal disorder spondyloepiphyseal dysplasia tarda (SEDT) that is thought to arise from an inability to secrete procollagen from the endoplasmic reticulum.
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
De Matteis et al., Napoli, Italy. In Science, 2012
Sedlin bound and promoted efficient cycling of Sar1, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils.
A yeast two hybrid screen identifies SPATA4 as a TRAPP interactor.
Sacher et al., Montréal, Canada. In Febs Lett, 2011
Data indicate SPATA4 interacts with the C2 portion of the TRAPP complex.
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Yu et al., Hong Kong, Hong Kong. In Plos One, 2010
Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8.
Interaction of Sedlin with PAM14.
Fan et al., Hefei, China. In J Cell Biochem, 2010
The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14.
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
Thakker et al., Oxford, United Kingdom. In Plos One, 2009
SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1.
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Gécz et al., Adelaide, Australia. In Clin Genet, 2003
3 new SEDL mutations were found: 1 in the non-canonical 5' splice site of intron 4 (IVS4+4T>C), a deletion in exon 6 [333-336del(GAAT) & a 1.335-kb deletion (in5/ex6del).
Membrane traffic fuses with cartilage development.
Sacher, Montréal, Canada. In Febs Lett, 2003
The recent finding that a defect in the protein sedlin, whose yeast counterpart is involved in the first step of the secretory pathway, leads to a cartilage-specific disorder in humans raises numerous questions and interesting possibilities for understanding both the pathobiology involved and the role of membrane traffic in normal cartilage development.
X-Linked Spondyloepiphyseal Dysplasia Tarda
Hannig et al., Seattle, United States. In Unknown Journal, 2001
TRAPPC2 (SEDL) is the only gene in which pathogenic variants are known to cause X-linked SEDT.
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
Gécz et al., Adelaide, Australia. In Nat Genet, 1999
Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive osteochondrodysplasia that occurs in approximately two of every one million people.
X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.
McAlister et al., Saint Louis, United States. In Medicine (baltimore), 1999
We characterize the clinical and radiographic evolution of X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) in a 6-generation kindred from Arkansas (SEDT(AK)).
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