TRAPPC2 Proteins and Enzymes

The protein encoded by the TRAPPC2 gene is thought to be part of a large multisubunit 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 MBP1 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 pseuodogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been found for this gene. (provided by RefSeq)