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 TRAPPC2gene.[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]
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-Golgitransport 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]
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Gedeon AK, Colley A, Jamieson R, et al. (1999). "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda". Nat. Genet. 22 (4): 400–4. doi:10.1038/11976. PMID10431248.
Gécz J, Hillman MA, Gedeon AK, et al. (2001). "Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda". Genomics. 69 (2): 242–51. doi:10.1006/geno.2000.6326. PMID11031107.
Mumm S, Zhang X, Vacca M, et al. (2001). "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site". Gene. 273 (2): 285–93. doi:10.1016/S0378-1119(01)00571-6. PMID11595175.
Gavin AC, Bösche M, Krause R, et al. (2002). "Functional organization of the yeast proteome by systematic analysis of protein complexes". Nature. 415 (6868): 141–7. doi:10.1038/415141a. PMID11805826.
Takahashi T, Takahashi I, Tsuchida S, et al. (2003). "An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda". Clin. Genet. 61 (4): 319–20. doi:10.1034/j.1399-0004.2002.610416.x. PMID12030902.
Fiedler J, Bittner M, Puhl W, Brenner RE (2003). "Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men". Clin. Genet. 62 (1): 94–5. doi:10.1034/j.1399-0004.2002.620114.x. PMID12123495.
Gao C, Luo Q, Wang HL, et al. (2003). "[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 20 (1): 15–8. PMID12579492.
Xiao C, Zhang S, Wang J, et al. (2003). "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family". Mutat. Res. 525 (1–2): 61–5. doi:10.1016/s0027-5107(02)00315-9. PMID12650905.
