LIMP2 (SCARB2) is a lysosomal transmembrane protein that serves as a receptor for glucocerebrosidase (GBC). It is essential for lysosomal enzyme trafficking. Mutations in LIMP2 cause a form of Gaucher disease and are associated with Parkinson's disease risk, linking lysosomal dysfunction to neurodegeneration.
LIMP2 (Lysosomal Integral Membrane Protein 2) is a gene located on chromosome 4q13 that plays an important role in neurodegenerative disease. Mutations in LIMP2 are associated with Parkinson's Disease, Gaucher Disease, Metabolic Disorders. The gene is catalogued as NCBI Gene ID 8740 and OMIM 613648.
The LIMP2 gene encodes a protein involved in key neuronal functions. It is expressed in Brain, Liver, Spleen, Lysosomes.
Expression data is available from the Allen Human Brain Atlas.
LIMP2 mutations are linked to the following conditions:
Parkinson's Disease, Gaucher Disease, Metabolic Disorders