" /> SCARB2 wt Allele - CISMeF





Preferred Label : SCARB2 wt Allele;

NCIt synonyms : 85 kDa Lysosomal Sialoglycoprotein Scavenger Receptor Class B, Member 2 Gene; LGP85; EPM4; Lysosomal Integral Membrane Protein II Gene; SR-BII; Sialoglycoprotein Scavenger Receptor Class B, Member 2 Gene; CD36 Antigen (Collagen Type I Receptor, Thrombospondin Receptor)-Like 2 (Lysosomal Integral Membrane Protein II) Gene; Scavenger Receptor Class B Member 2 wt Allele; AMRF; LIMPII; LIMP-2; CD36L2; HLGP85;

NCIt definition : Human SCARB2 wild-type allele is located in the vicinity of 4q21.1 and is approximately 76 kb in length. This allele, which encodes lysosome membrane protein 2, is involved in the localization and endocytosis of glucosylceramidase and host cell entry of enterovirus 71. Mutation of the gene is associated with autosomal recessive progressive myoclonic epilepsy-4 (EPM4; action myoclonus-renal failure syndrome; AMRF).;

NCI Metathesaurus CUI : CL1927416;

GenBank Accession Number : D12676;

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25/05/2025


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