Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Ras-assoziiertes Protein RAB27A

Das RAB27A-Gen kodiert ein Protein, welches zusammen mit dem Ras für die G-Protein assoziierte Signaltransduktion verantwortlich ist. Mutationen führen zum autosomal rezessiven Griscelli-Syndrom Typ 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Griscelli-Syndrom Typ 2
RAB27A

Referenzen:

1.

Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

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2.

Nagata K et al. (1990) The ram: a novel low molecular weight GTP-binding protein cDNA from a rat megakaryocyte library.

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3.

Nagata K et al. (1989) Purification, identification, and characterization of two GTP-binding proteins with molecular weights of 25,000 and 21,000 in human platelet cytosol. One is the rap1/smg21/Krev-1 protein and the other is a novel GTP-binding protein.

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4.

Seabra MC et al. (1995) Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

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5.

Hurvitz H et al. (1993) A kindred with Griscelli disease: spectrum of neurological involvement.

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6.

Chen D et al. (1997) Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.

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7.

Pastural E et al. (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.

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8.

Tolmachova T et al. (1999) Cloning, mapping and characterization of the human RAB27A gene.

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9.

Pastural E et al. (2000) Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

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10.

Ménasché G et al. (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

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11.

Wilson SM et al. (2000) A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.

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12.

Kuroda TS et al. (2002) The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.

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13.

Fukuda M et al. (2002) Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.

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14.

Anikster Y et al. (2002) Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

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15.

Menasche G et al. (2003) Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

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16.

Aksu G et al. (2003) Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.

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17.

Bahadoran P et al. (2003) Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.

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18.

Bizario JC et al. (2004) Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

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19.

Rak A et al. (2004) Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.

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20.

Kuroda TS et al. (2004) Rab27A-binding protein Slp2-a is required for peripheral melanosome distribution and elongated cell shape in melanocytes.

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21.

Kasai K et al. (2005) Rab27a mediates the tight docking of insulin granules onto the plasma membrane during glucose stimulation.

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22.

Ménasché G et al. (2008) A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion.

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Update: 17. Oktober 2019