Gene Symbol | TRAPPC2 |
Entrez Gene ID | 6399 |
Full Name | trafficking protein particle complex 2 |
Synonyms | MIP2A,SEDL,SEDT,TRAPPC2P1,TRS20,ZNF547L,hYP38334 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spondyloepiphyseal dysplasia tarda, 313400 (3) |