TSPO2
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
