MFSD8 explained
Major facilitator superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene.[1] MFSD8 is an atypical SLC,[2] [3] 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 (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.[4]
Clinical significance
Mutations in the MFSD8 gene have been of neuronal ceroid lipofuscinosis.[5]
External links
Further reading
- Aiello C, Terracciano A, Simonati A, etal . Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. . Hum. Mutat. . 30 . 3 . E530–40 . 2009 . 19177532 . 10.1002/humu.20975 . 205918953 .
- Kousi M, Siintola E, Dvorakova L, etal . Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. . Brain . 132 . Pt 3 . 810–9 . 2009 . 19201763 . 10.1093/brain/awn366 . free .
- Wheeler RB, Sharp JD, Mitchell WA, etal . A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. . Mol. Genet. Metab. . 66 . 4 . 337–8 . 1999 . 10191125 . 10.1006/mgme.1999.2804 .
- Otsuki T, Ota T, Nishikawa T, etal . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. . DNA Res. . 12 . 2 . 117–26 . 2005 . 16303743 . 10.1093/dnares/12.2.117 . free .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
- Mitchell WA, Wheeler RB, Sharp JD, etal . Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. . Eur. J. Paediatr. Neurol. . 5 Suppl A . 21–7 . 2001 . 11589000 . 10.1053/ejpn.2000.0429.
- Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS . Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. . Neurogenetics . 10 . 4 . 307–11 . 2009 . 19277732 . 10.1007/s10048-009-0185-1 . 36438803 .
- Brandenberger R, Wei H, Zhang S, etal . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. . Nat. Biotechnol. . 22 . 6 . 707–16 . 2004 . 15146197 . 10.1038/nbt971 . 27764390 .
Notes and References
- Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE . The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter . Am. J. Hum. Genet. . 81 . 1 . 136–46 . July 2007 . 17564970 . 1950917 . 10.1086/518902 .
- Perland. Emelie. Fredriksson. Robert. March 2017. Classification Systems of Secondary Active Transporters. Trends in Pharmacological Sciences. 38. 3. 305–315. 10.1016/j.tips.2016.11.008. 1873-3735. 27939446.
- Perland. Emelie. Bagchi. Sonchita. Klaesson. Axel. Fredriksson. Robert. September 2017. Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression. Open Biology. 7. 9. 10.1098/rsob.170142. 2046-2441. 28878041. 5627054. 170142.
- Web site: Entrez Gene: MFSD8 .
- Stogmann E, El Tawil S, Wagenstaller J, etal . A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis . Neurogenetics . 10 . 1 . 73–7 . February 2009 . 18850119 . 10.1007/s10048-008-0153-1 . 22802019 .
