Major facilitator superfamily domain containing 8 also called MFSD8 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''MFSD8''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
MFSD8 is an
atypical SLC,
thus a predicted
SLC transporter. It clusters phylogenetically to the Atypical MFS Transporter family 2 (
AMTF2).
Function
MFSD8 is a ubiquitous integral membrane protein which contains a transporter domain and a
major facilitator superfamily
The major facilitator superfamily (MFS) is a superfamily of membrane transport proteins that facilitate movement of small solutes across cell membranes in response to chemiosmotic gradients.
Function
The major facilitator superfamily (MFS) are ...
(MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein, likely localizes to
lysosomal
A lysosome () is a membrane-bound organelle found in many animal Cell (biology), cells. They are spherical Vesicle (biology and chemistry), vesicles that contain Hydrolysis, hydrolytic enzymes that can break down many kinds of biomolecules. A ly ...
membranes.
Clinical significance
Mutations in the MFSD8 gene have been of
neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These l ...
.
References
External links
GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
Further reading
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