MFSD8

MFSD8 (Major Facilitator Superfamily Domain Containing 8) is a protein that in humans is encoded by the MFSD8 gene. This protein is a member of the major facilitator superfamily, a diverse group of proteins that transport small solutes in response to chemiosmotic ion gradients.

Function

The MFSD8 protein is a lysosomal protein that is involved in the transport of lipids. It is particularly important in the brain, where it helps to maintain the health and function of neurons. Mutations in the MFSD8 gene can lead to a rare neurodegenerative disorder known as Neuronal Ceroid Lipofuscinosis (NCL).

Clinical significance

Mutations in the MFSD8 gene are associated with a form of NCL known as variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). This is a severe neurodegenerative disorder that typically begins in childhood and leads to progressive loss of vision, motor function, and cognitive abilities. There is currently no cure for vLINCL, and treatment is focused on managing symptoms and improving quality of life.

Research

Research into the MFSD8 gene and its associated protein is ongoing, with scientists seeking to better understand its function and the mechanisms by which mutations can lead to disease. This research may eventually lead to new treatments for vLINCL and other conditions associated with MFSD8 mutations.

See also

• Major facilitator superfamily
• Neuronal Ceroid Lipofuscinosis
• Lysosome

References

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