Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Trafficking-Protein Untereinheit 2 (TRAPPC2)

Das TRAPPC2-Gen kodiert ein TRansportptotein, welches in den Transport von endoplasmatischen Retikulum in den Golgi-Apparat eingebunden ist. Mutationen führen zur x-chromosomal rezessiven verzögerten spondyloepiphysären Dysplasie.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung ausgewählter Gen-Abschnitte
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Verzögerte spondyloepiphysäre Dysplasie
TRAPPC2

Referenzen:

1.

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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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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

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14.

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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15.

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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16.

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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17.

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

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18.

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

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Update: 25. Oktober 2019
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