MFSD8
| Major facilitator superfamily domain containing 8 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | MFSD8 ; CCMD; CLN7 | ||||||||||||
| External IDs | OMIM: 611124 MGI: 1919425 HomoloGene: 115814 GeneCards: MFSD8 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 256471 | 72175 | |||||||||||
| Ensembl | ENSG00000164073 | ENSMUSG00000025759 | |||||||||||
| UniProt | Q8NHS3 | Q8BH31 | |||||||||||
| RefSeq (mRNA) | NM_152778 | NM_028140 | |||||||||||
| RefSeq (protein) | NP_689991 | NP_082416 | |||||||||||
| Location (UCSC) |
Chr 4: 127.92 – 127.97 Mb |
Chr 3: 40.82 – 40.85 Mb | |||||||||||
| PubMed search | |||||||||||||
Major facilitator superfamily domain containing 8 also known as MFSD8 is a protein that in humans is encoded by the MFSD8 gene.[1]
Function
MFSD8 is a ubiquitous integral membrane protein that 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.[2]
Clinical significance
Mutations in the MFSD8 gene have been associated with neuronal ceroid lipofuscinosis.[3]
References
- ↑ 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.
- ↑ "Entrez Gene: MFSD8".
- ↑ 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.
External links
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.
- 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. 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.
- 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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