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 |
Related Diseases:
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.
|
2. |
Neculai D et al. (2013) Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36.
|
3. |
Jović M et al. (2012) Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase.
|
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.
|
5. |
Yamayoshi S et al. (2009) Scavenger receptor B2 is a cellular receptor for enterovirus 71.
|
6. |
Reczek D et al. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
|
7. |
Gamp AC et al. (2003) LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice.
|
8. |
Calvo D et al. (1995) The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution.
|
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.
|
10. |
Dibbens LM et al. (2011) Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
|
11. |
Dibbens LM et al. (2009) SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
12. |
Costello DJ et al. (2009) Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.
|
13. |
Balreira A et al. (2008) A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
|
14. |
Badhwar A et al. (2004) Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
|
15. |
Orphanet article
Orphanet ID 165923
|
16. |
NCBI article
NCBI 950
|
17. |
OMIM.ORG article
Omim 602257
|
18. |
Wikipedia article
Wikipedia EN (SCARB2)
|
Update: Aug. 14, 2020