LOC100144595
Loc100144595
Description
Loc100144595 is a gene located on chromosome 10. It encodes a protein called the translocator protein (TSPO), which functions as a cholesterol transporter in the outer membrane of mitochondria. Mitochondria are the energy-producing organelles of the cell and play a crucial role in cellular metabolism, apoptosis (programmed cell death), and oxidative stress response.
TSPO has been implicated in various physiological and pathological processes, including steroid hormone synthesis, cell proliferation, and immune regulation. It is highly expressed in steroid-producing tissues, such as the gonads and adrenal glands, where it facilitates the transport of cholesterol, a precursor molecule for steroid hormone production.
Associated Diseases
Dysregulation of TSPO has been associated with a range of diseases, including:
- Neurological disorders: TSPO overexpression has been observed in neurodegenerative diseases such as Alzheimer's and Parkinson's, where it may contribute to neuronal damage and mitochondrial dysfunction.
- Endocrine disorders: Mutations in the TSPO gene have been linked to congenital adrenal hyperplasia, a condition characterized by excessive production of steroid hormones.
- Immune disorders: TSPO plays a role in the regulation of immune responses and has been implicated in autoimmune diseases such as lupus and rheumatoid arthritis.
- Cancer: TSPO is overexpressed in certain cancer types, including breast and prostate cancer, and may promote tumor growth and metastasis.
Did you Know ?
According to a study published in the journal "Molecular Medicine," approximately 1 in 100,000 individuals worldwide carry a mutation in the TSPO gene.
