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Ras-related protein RAB27A

The RAB27A gene encodes a protein that in association with the Ras protein controls G protein coupled signal transduction. Mutations cause Griscelli syndrome type 2.

Genetests:

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

Related Diseases:

Griscelli syndrome type 2
RAB27A

References:

1.

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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2.

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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3.

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

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4.

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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5.

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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6.

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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7.

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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8.

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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9.

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

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10.

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

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11.

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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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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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19.

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

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20.

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

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21.

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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22.

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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Update: Aug. 14, 2020
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