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TRAPPC2 / SEDL 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.
Gene Name: | trafficking protein particle complex 2 |
Synonyms: | TRAPPC2, MIP-2a, SEDT, TRS20, TRAPPC2P1, ZNF547L, HYP38334, MIP2A, SEDL, Sedlin |
Target Sequences: | NM_014563 NP_055378.1 O14582 |
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