SCARB2 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

SCARB2: Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting. Defects in SCARB2 are the cause of progressive myoclonic epilepsy type 4 with or without renal failure (EPM4). 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. Cognitive function is preserved. Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease. Belongs to the CD36 family.

Protein type: Receptor, misc.; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4q21.1

Cellular Component: lysosomal lumen; focal adhesion; membrane; lysosomal membrane; integral to membrane

Molecular Function: protein binding; enzyme binding; receptor activity

Biological Process: protein targeting to lysosome; cell adhesion

Disease: Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure