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Reviewed August 2013
What is the official name of the MFSD8 gene?
The official name of this gene is “major facilitator superfamily domain containing 8.”
MFSD8 is the gene's official symbol. The MFSD8 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the MFSD8 gene?
The MFSD8 gene provides instructions for making a protein whose function is unknown. The MFSD8 protein is found in cell compartments called lysosomes, which digest and recycle different types of molecules. The MFSD8 protein belongs to a large group of related proteins called the major facilitator superfamily of secondary active transporter proteins. Proteins in this family move certain molecules between structures in cells or in and out of cells. While it is likely that the MFSD8 protein transports molecules, the specific molecules it moves are unknown. The MFSD8 protein probably transports substances across the membranes of lysosomes.
How are changes in the MFSD8 gene related to health conditions?
Where is the MFSD8 gene located?
Cytogenetic Location: 4q28.2
Molecular Location on chromosome 4: base pairs 127,917,805 to 127,965,984
The MFSD8 gene is located on the long (q) arm of chromosome 4 at position 28.2.
More precisely, the MFSD8 gene is located from base pair 127,917,805 to base pair 127,965,984 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MFSD8?
You and your healthcare professional may find the following resources about MFSD8 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the MFSD8 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MFSD8?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.