| MFSD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MFSD8 , CLN7, CCMD, major facilitator superfamily domain containing 8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611124 MGI: 1919425 HomoloGene: 115814 GeneCards: MFSD8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Major facilitator superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene. [5] MFSD8 is an atypical SLC, [6] [7] thus a predicted SLC transporter. It clusters phylogenetically to the Atypical MFS Transporter family 2 (AMTF2). [7]
MFSD8 is a ubiquitous integral membrane protein which contains a transporter domain and a major facilitator superfamily (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. [8]
Mutations in the MFSD8 gene have been of neuronal ceroid lipofuscinosis. [9]
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).
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 lipopigments are made up of fats and proteins. Their name comes from the word stem "lipo-", which is a variation on lipid, and from the term "pigment", used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.
Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16. Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter. In humans, it belongs to the atypical SLCs due to its structural and phylogenetic similarity to other SLC transporters.
Palmitoyl protein hydrolase/thioesterases is an enzyme (EC 3.1.2.22) that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. It catalyzes the reaction
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.
Tripeptidyl-peptidase 1, also known as Lysosomal pepstatin-insensitive protease, is an enzyme that in humans is encoded by the TPP1 gene. TPP1 should not be confused with the TPP1 shelterin protein which protects telomeres and is encoded by the ACD gene. Mutations in the TPP1 gene leads to late infantile neuronal ceroid lipofuscinosis.
Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.
Major facilitator superfamily domain-containing protein 2 -- also known as sodium-dependent lysophosphatidylcholine symporter 1 -- is a protein that in humans is encoded by the MFSD2A gene. MFSD2A is a membrane transport protein that is expressed in the endothelium of the blood–brain barrier (BBB) and has an essential role in BBB formation and function. Genetic ablation of MFSD2A results in leaky BBB and increases central nervous system endothelial cell vesicular transcytosis without otherwise affecting tight junctions. MFSD2A is an atypical SLC, thus a predicted SLC transporter. It clusters phylogenetically to AMTF8.
Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.
Unc-93 homolog A is a protein that in humans is encoded by the UNC93A gene.
Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs) or Batten disease. NCLs are broadly described to create problems with vision, movement and cognitive function. Among all NCLs diseases, Kufs is the only one that does not affect vision, and although this is a distinguishing factor of Kufs, NCLs are typically differentiated by the age at which they appear in a patient
Major facilitator superfamily domain containing 7 is a protein that in humans is encoded by the MFSD7 gene.
Major facilitator superfamily domain containing 3 (MFSD3) is a protein belonging to the MFS Pfam clan. It is an Atypical solute carrier located to the neuronal plasma membrane.
Major facilitator superfamily domain containing 5 is an atypical SLC expressed in neuronal plasma membrane. It is a plausible Solute carrier transporter. It transports molybdate anions, and it interacts with GLP-1R.
Major facilitator superfamily domain containing 11 (MFSD11) is an atypical Solute carrier found in plasma membranes.
Atypical Solute Carrier Families are novel plausible secondary active or facilitative transporter proteins that share ancestral background with the known solute carrier families (SLCs). However, they have not been assigned a name according to the SLC root system, or been classified into any of the existing SLC families.
Major facilitator superfamily domain-containing protein 9 is a protein that in humans is encoded by the MFSD9 gene. It is a potential solute carrier, and called atypical solute carrier since it is not named according to the SLC nomenclature. It is expressed both in central and peripheral organs.
Major facilitator superfamily domain containing 4A is a protein belonging to the MFS Pfam clan. It is an atypical solute carrier, thus a plausible SLC transporter in humans. MFSD4A has been identified in both central and peripheral areas.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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