Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 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.

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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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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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.

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

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13.

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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14.

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

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15.

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

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16.

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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17.

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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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