Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Lysosome membrane protein 2

The protein encoded by the SCARB2 gene is a glycoprotein of lysosomal and endosomal membranes. Mutations cause the autosomal recessive action myoclonus-renal failure syndrome (AMRF) that manifests in young adults with epilepsy and proteinuria.

Genetests:

Research 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:

Myoclonus-nephropathy syndrome
SCARB2

References:

1.

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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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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8.

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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9.

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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10.

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

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11.

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

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12.

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

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13.

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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14.

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

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15.

Orphanet article

Orphanet ID 165923 external link
16.

NCBI article

NCBI 950 external link
17.

OMIM.ORG article

Omim 602257 external link
18.

Wikipedia article

Wikipedia EN (SCARB2) external link
Update: Aug. 14, 2020
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