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Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Trafficking protein particle complex subunit 2

The TRAPPC2 gene encodes a transport protein involved in the targeting and fusion of endoplasmic reticulum and Golgi apparatus. Mutations cause x-linked recessive Spondyloepiphyseal dysplasia tarda.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Spondyloepiphyseal dysplasia tarda
TRAPPC2

References:

1.

Takahashi T et al. (2002) An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.

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2.

Davis EE et al. (2014) Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.

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3.

Venditti R et al. (2012) Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.

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4.

Scrivens PJ et al. (2011) C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.

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5.

Bar-Yosef U et al. (2004) X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.

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6.

Shaw MA et al. (2003) Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.

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7.

Shi YR et al. (2002) A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.

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8.

Jang SB et al. (2002) Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.

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9.

Fiedler J et al. (2002) Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men.

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10.

Whyte MP et al. (1999) X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.

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11.

Mumm S et al. (2001) The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.

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12.

Christie PT et al. (2001) Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

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13.

Grunebaum E et al. (2001) A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.

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14.

Gedeon AK et al. (2001) The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

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15.

Tiller GE et al. (2001) A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

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16.

Gécz J et al. (2000) Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.

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17.

Mumm S et al. (2000) A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.

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18.

Gedeon AK et al. (1999) Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

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Update: Aug. 14, 2020
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