SLC25A48
SLC25A48 Gene: A Comprehensive Guide
Description
SLC25A48, also known as mitochondrial solute carrier family 25 member 48, is a gene that encodes a protein responsible for transporting folate into mitochondria. Folate, a B vitamin, is essential for DNA synthesis and repair, as well as the production of red blood cells.
SLC25A48 is located on chromosome 11p15.5 and is highly expressed in tissues with high energy demands, such as the brain, heart, and skeletal muscle. The protein it encodes is embedded in the mitochondrial membrane and acts as a gatekeeper, allowing folate into the organelle where it is utilized for various metabolic processes.
Associated Diseases
Mutations in the SLC25A48 gene have been linked to several diseases, including:
- Megaloblastic Anemia: A condition characterized by abnormally large red blood cells due to impaired DNA synthesis caused by folate deficiency.
- Cerebral Folate Deficiency Syndrome (CFD): A rare genetic disorder that results in severe neurological symptoms, including developmental delay, seizures, and progressive brain atrophy.
Did you Know ?
Approximately 1 in 50,000 people worldwide have a mutation in the SLC25A48 gene that leads to CFD. However, due to the rarity of the condition, many cases remain undiagnosed.
