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. [^]

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

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

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

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

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

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

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

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

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

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. [^]

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

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

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

Update: 23. Juni 2016