Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]: An autosomal recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. {ECO:0000269|PubMed:18308289, ECO:0000269|PubMed:18424452, ECO:0000269|PubMed:19454373, ECO:0000269|PubMed:21670406}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Note=Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease. {ECO:0000269|PubMed:21796727}.
MUTAGEN 475 475 L->A,G,D,V: Prevents the targeting of the protein to lysosomes. {ECO:0000269|PubMed:7509809}.; MUTAGEN 475 475 L->I: Some loss in the efficiency of targeting of the protein to lysosomes. {ECO:0000269|PubMed:7509809}.; MUTAGEN 476 476 I->A,V: Does not prevent the targeting of the protein to lysosomes completely. {ECO:0000269|PubMed:7509809}.; MUTAGEN 476 476 I->D,E,G: Prevents the targeting of the protein to lysosomes. {ECO:0000269|PubMed:7509809}.; MUTAGEN 476 476 I->L: Normal targeting of the protein to lysosomes. {ECO:0000269|PubMed:7509809}.; MUTAGEN 477 477 R->A,E,G,K,Q: Normal targeting of the protein to lysosomes. {ECO:0000269|PubMed:7509809}.; MUTAGEN 478 478 T->G,I,S,V: Normal targeting of the protein to lysosomes. {ECO:0000269|PubMed:7509809}.