Trafficking Protein Particle Complex 2 (TRAPPC2) Antibody – Rabbit Polyclonal

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]

TRAPPC2: Prevents MBP1-mediated transcriptional repression and antagonizes MBP1-mediated cell death. May play a role in vesicular transport from endoplasmic reticulum to Golgi. Belongs to the TRAPP small subunits family. Sedlin subfamily. Part of the multisubunit TRAPP (transport protein particle) complex. Interacts with MBP1 and TRAPPC2L. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: Xp22

Cellular Component: Golgi apparatus; perinuclear region of cytoplasm; endoplasmic reticulum; nucleus

Molecular Function: protein binding; transcription factor binding

Biological Process: ER to Golgi vesicle-mediated transport; transcription, DNA-dependent; regulation of transcription, DNA-dependent; skeletal development

Disease: Spondyloepiphyseal Dysplasia Tarda, X-linked