MFSD8

MFSD8
Identifiers
Aliases	MFSD8 , CLN7, CCMD, major facilitator superfamily domain containing 8
External IDs	OMIM: 611124; MGI: 1919425; HomoloGene: 115814; GeneCards: MFSD8; OMA:MFSD8 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q28.2 Start 127,917,799 bp [1] End 127,966,034 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 B Start 40,818,103 bp [2] End 40,846,886 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon body of pancreas bone marrow cells epithelium of colon cerebellar hemisphere sural nerve pancreatic epithelial cell monocyte right hemisphere of cerebellum anterior pituitary Top expressed in white adipose tissue quadriceps femoris muscle muscle tissue skeletal muscle tissue liver muscle of thigh ganglionic eminence jejunum neural layer of retina ileum More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 256471 72175 Ensembl ENSG00000164073 ENSMUSG00000025759 UniProt Q8NHS3 Q8BH31 RefSeq (mRNA) NM_152778 NM_001363520 NM_001363521 NM_001371590 NM_001371591 NM_001371592 NM_001371593 NM_001371594 NM_001371595 NM_001371596 NM_028140 RefSeq (protein) NP_689991 NP_001350449 NP_001350450 NP_001358519 NP_001358520 NP_001358521 NP_001358522 NP_001358523 NP_001358524 NP_001358525 NP_082416 Location (UCSC) Chr 4: 127.92 – 127.97 Mb Chr 3: 40.82 – 40.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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. ^[8]

Clinical significance

Mutations in the MFSD8 gene have been of neuronal ceroid lipofuscinosis. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000164073 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025759 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE (July 2007). "The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter". Am. J. Hum. Genet. 81 (1): 136–46. doi:10.1086/518902. PMC   1950917 . PMID   17564970.
6. Perland, Emelie; Fredriksson, Robert (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. ISSN   1873-3735. PMID   27939446.
7. 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): 170142. doi:10.1098/rsob.170142. ISSN   2046-2441. PMC   5627054 . PMID   28878041.
8. "Entrez Gene: MFSD8".
9. Stogmann E, El Tawil S, Wagenstaller J, et al. (February 2009). "A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis". Neurogenetics. 10 (1): 73–7. doi:10.1007/s10048-008-0153-1. PMID   18850119. S2CID   22802019.

External links

• GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses

Further reading

• Aiello C, Terracciano A, Simonati A, et al. (2009). "Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis". Hum. Mutat. 30 (3): E530–40. doi:10.1002/humu.20975. PMID   19177532. S2CID   205918953.
• Kousi M, Siintola E, Dvorakova L, et al. (2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3): 810–9. doi: 10.1093/brain/awn366 . PMID   19201763.
• Wheeler RB, Sharp JD, Mitchell WA, et al. (1999). "A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7". Mol. Genet. Metab. 66 (4): 337–8. doi:10.1006/mgme.1999.2804. PMID   10191125.
• Otsuki T, Ota T, Nishikawa T, et al. (2005). "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. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Mitchell WA, Wheeler RB, Sharp JD, et al. (2001). "Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8". Eur. J. Paediatr. Neurol. 5 Suppl A: 21–7. doi:10.1053/ejpn.2000.0429. PMID   11589000.
• Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging". Neurogenetics. 10 (4): 307–11. doi:10.1007/s10048-009-0185-1. PMID   19277732. S2CID   36438803.
• Brandenberger R, Wei H, Zhang S, et al. (2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.