Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lysosomen-Membranprotein 2

Das vom SCARB2-Gen kodierte Protein ist ein Glycoprotein lysosomaler und endosomaler Membranen. Mutationen sind für das autosomal rezessive Myoclonus-Nephropathie-Syndrom verantwortlich, welches sich bei jungen Erwachsenen mit Epilepsie und Proteinurie manifestiert.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Myoclonus-Nephropathie-Syndrom
SCARB2

Referenzen:

1.

Fujita H et. al. (1992) Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells.

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2.

Calvo D et. al. (1995) The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution.

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3.

Gamp AC et. al. (2003) LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice.

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4.

Badhwar A et. al. (2004) Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

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5.

Reczek D et. al. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.

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6.

Berkovic SF et. al. (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

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7.

Balreira A et. al. (2008) A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

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8.

Yamayoshi S et. al. (2009) Scavenger receptor B2 is a cellular receptor for enterovirus 71.

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9.

Costello DJ et. al. (2009) Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.

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10.

Dibbens LM et. al. (2009) SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

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11.

Blanz J et. al. (2010) Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.

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12.

Dibbens LM et. al. (2011) Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

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13.

Jović M et. al. (2012) Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase.

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14.

Neculai D et. al. (2013) Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36.

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