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The protein encoded by TRAPPC2 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. Zusätzlich bieten wir Ihnen TRAPPC2 Antikörper (50) und TRAPPC2 Proteine (13) und viele weitere Produktgruppen zu diesem Protein an.
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c.93+5G>A mutation in the TRAPPC2 gene is associated with X-linked spondyloepiphyseal dysplasia in a Chinese family.
Data suggest that c.267_271delAAGAC frameshift mutation of the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL) gene probably underlies the disease in the family.
identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis.
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
Studies indicate that splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1 (zeige COL1A1 ELISA Kits), SEDL and LRP (zeige RPSA ELISA Kits).
Sedlin bound and promoted efficient cycling of Sar1 (zeige IQGAP1 ELISA Kits), a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils.
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.
Data indicate SPATA4 interacts with the C2 portion of the TRAPP complex.
SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1 (zeige HIVEP1 ELISA Kits), PITX1 (zeige PITX1 ELISA Kits) and SF1 (zeige NR5A1 ELISA Kits).
The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG (zeige FABP7 ELISA Kits) family of transcription factors via binding to PAM14 (zeige MRFAP1 ELISA Kits).
x-ray crystallography analysis of mouse SEDL
The sedlin mutations S73L, F83S and V130D cause SEDT by sedlin misfolding, whereas the D47Y mutation may influence normal TRAPP (transport protein particle) dynamics.
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.
trafficking protein particle complex 2
, trafficking protein particle complex subunit 2
, spondyloepiphyseal dysplasia tarda protein
, spondyloepiphyseal dysplasia, late
, trafficking protein particle complex protein 2