SCARB2
Function
Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting.
(Microbial infection) Acts as a receptor for enterovirus 71.
Involvement in disease
Epilepsy, progressive myoclonic 4, with or without renal failure
EPM4
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved.
None
The disease is caused by variants affecting the gene represented in this entry.
Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.
Sequence Similarities
Belongs to the CD36 family.
Cellular localization
- Lysosome membrane
- Multi-pass membrane protein
Alternative names
CD36, CD36L2, LIMP2, LIMPII, SCARB2, Lysosome membrane protein 2, 85 kDa lysosomal membrane sialoglycoprotein, CD36 antigen-like 2, Lysosome membrane protein II, Scavenger receptor class B member 2, LGP85, LIMP II