TRAPPC2
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Trafficking protein particle complex subunit 2 (TRAPPC2) also known as MBP-1-interacting protein 2A (MIP-2A) is a protein that in humans is encoded by the TRAPPC2 gene.[1][2] A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.[2]
Contents
Function
Trafficking protein particle complex subunit 2 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.[2]
Genetic Location
The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.[3]
Clinical significance
Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).[2]
Interactions
TRAPPC2 has been shown to interact with Alpha-enolase[4] and CLIC1.[5]
References
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Further reading
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External links
- GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda
- OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda
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