MFSD8
Encyclopedia
Major facilitator superfamily domain containing 8 also known as MFSD8 is a protein
that in humans is encoded by the MFSD8 gene
.
(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
membranes.
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the MFSD8 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
MFSD8 is a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamilyMajor facilitator family
The Major Facilitator Superfamily transporters are secondary carriers transporting small solutes in response to chemiosmotic ion gradients.-Human proteins containing this domain :*FLVCR; FLVCR1; FLVCR2; *HIAT1; HIATL1; HMFN2567;...
(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
Lysosome
thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...
membranes.
Clinical significance
Mutations in the MFSD8 gene have been associated with neuronal ceroid lipofuscinosisNeuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinoses is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments in the body's tissues. These lipopigments are made up of fats and proteins...
.