Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Myoclonus-nephropathy syndrome
SCARB2

References:

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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Update: Sept. 26, 2018