TSPO2

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Description

The TSPO2 (translocator protein 2) is a protein-coding gene located on chromosome 6.

TSPO2 is a cholesterol-binding protein involved in the redistribution of cholesterol from lipid droplets to the endoplasmic reticulum (PubMed:19729679). It is essential for meeting cholesterol demands during erythropoietic differentiation (PubMed:19729679). TSPO2 may also play a role in transport processes at the plasma membrane of erythrocytes, including regulating VDAC-mediated ATP export, and import of the heme precursors protoporphyrin IX and 5-aminolevulinic acid (PubMed:27641616, PubMed:30061676, PubMed:31989647).

TSPO2 is also known as BZRPL1.

Associated Diseases

• type 2 diabetes mellitus
• alpha thalassemia-intellectual disability syndrome type 1
• primary familial polycythemia due to EPO receptor mutation
• hemolytic anemia due to diphosphoglycerate mutase deficiency
• beta-thalassemia-X-linked thrombocytopenia syndrome
• delta-beta-thalassemia
• hemoglobin E-beta-thalassemia syndrome
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• erythrocytosis, familial, 3
• erythrocytosis, familial, 6
• alpha-thalassemia-myelodysplastic syndrome
• Rh deficiency syndrome
• hemoglobin D disease
• erythrocytosis, familial, 4
• dehydrated hereditary stomatocytosis
• hemolytic anemia due to erythrocyte adenosine deaminase overproduction
• cryohydrocytosis