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TRAPPC2

Official Full Name
trafficking protein particle complex subunit 2
Organism
Homo sapiens
GeneID
6399
Background
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]
Synonyms
SEDL; SEDT; MIP2A; TRS20; ZNF547L; hYP38334; TRAPPC2P1;

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