TRAPPC2 Products

Description

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)

Bioinformatics

Entrez	6399 Human
Uniprot	AAH16915 Human NM_014563 Human NP_001011658 Human NP_055378 Human
Product By Gene ID	6399
Alternate Names	MIP2A SEDTlate trafficking protein particle complex 2