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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''MFSD8''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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 Protein superfamily, superfamily of membrane transport proteins that facilitate movement of small solutes across cell membranes in response to chemiosmosis, chemiosmotic gradients.
Function
The major ...
(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 that is found in all mammalian cells, with the exception of red blood cells (erythrocytes). There are normally hundreds of lysosomes in the cytosol, where they function as the cell’s degradation cent ...
membranes.
Clinical significance
Mutations in the MFSD8 gene have been of
neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis is 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 lipopigments are made ...
.
References
External links
GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
Further reading
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