Product Name
MFSD8, cDNA Clone
Full Product Name
MFSD8 cDNA Clone
Product Gene Name
MFSD8 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggccggcc tgcggaacga aagtgaacag gagccgctct taggcgacac acctggaagc agagaatggg acattttaga gactgaagag cattataaga gccgatggag atctattagg attttatatc ttactatgtt tctcagcagt gtagggtttt ctgtagtgat gatgtccata tggccatatc tccaaaagat tgatccgaca gctgatacaa gttttttggg ctgggttatt gcttcatata gtcttggcca aatggtagct tcacctatat ttggtttatg gtctaattat agaccaagaa aagagcctct tattgtctcc atcttgattt ccgtggcagc caactgcctc tatgcatatc tccacatccc agcttctcat aataaatact acatgctggt tgctcgtgga ttgttgggaa ttggagcagg aaatgtagca gttgttagat catatactgc tggtgctact tcccttcagg aaagaacaag ttccatggca aacataagca tgtgtcaagc attaggtttt attctaggtc cagtttttca gacttgtttt acattccttg gagaaaaagg tgtgacatgg gatgtgatta aactgcagat aaacatgtat acaacaccag ttttacttag cgccttcctg ggaattttaa atattattct gatccttgcc atactaagag aacatcgtgt ggatgactca ggaagacagt gtaaaagtat taattttgaa gaagcaagta cagatgaagc tcaggttccc caaggaaata ttgaccaggt tgctgttgtg gccatcaatg ttctgttttt tgtgactcta tttatctttg ccctttttga aaccatcatt actccattaa caatggatat gtatgcctgg actcaagaac aagctgtgtt atataatggc ataatacttg ctgctcttgg ggttgaagcc gttgttattt tcttaggagt taagttgctt tccaaaaaga ttggcgagcg tgctattcta ctgggaggac tcatcgttgt atgggttggc ttctttatct tgttaccttg gggaaatcaa tttcccaaaa tacagtggga agatttgcac aataattcaa tccctaatac cacatttggg gaaattatta ttggtctttg gaagtctcca atggaagatg acaatgaaag accaactggt tgctcgattg aacaagcctg gtgcctctac accccggtga ttcatctggc ccagttcctt acatcagctg tgctaatagg attaggctat ccagtctgca atcttatgtc ctatactcta tattcaaaaa ttctaggacc aaaacctcag ggtgtataca tgggctggtt aacagcatct ggaagtggag cccggattct tgggcctatg ttcatcagcc aagtgtatgc tcactgggga ccacgatggg cattcagcct ggtgtgtgga ataatagtgc tcaccatcac cctcctggga gtggtttaca aaagactcat tgctctttct gtaagatatg ggaggattca ggaataa
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of MFSD8 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for MFSD8. It may not necessarily be applicable to this product.
NCBI Accession #
BC029503
[Other Products]
UniProt Secondary Accession #
Q8N2P3; B2RDM1; B7Z205[Other Products]
UniProt Related Accession #
Q8NHS3[Other Products]
Molecular Weight
17,092 Da
NCBI Official Full Name
Homo sapiens major facilitator superfamily domain containing 8, mRNA
NCBI Official Synonym Full Names
major facilitator superfamily domain containing 8
NCBI Official Symbol
MFSD8??[Similar Products]
NCBI Official Synonym Symbols
CCMD; CLN7
??[Similar Products]
NCBI Protein Information
major facilitator superfamily domain-containing protein 8
UniProt Protein Name
Major facilitator superfamily domain-containing protein 8
UniProt Synonym Protein Names
Ceroid-lipofuscinosis neuronal protein 7
Protein Family
Major facilitator superfamily domain-containing protein
UniProt Gene Name
MFSD8??[Similar Products]
UniProt Synonym Gene Names
CLN7??[Similar Products]
UniProt Entry Name
MFSD8_HUMAN
NCBI Summary for MFSD8
This gene encodes 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. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
UniProt Comments for MFSD8
MFSD8: May be a carrier that transport small solutes by using chemiosmotic ion gradients (Potential). Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7). A form of late infantile neuronal ceroid lipofuscinosis. CNL are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure. Belongs to the major facilitator superfamily.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 4q28.2
Cellular Component: intracellular membrane-bound organelle; lysosomal membrane; nucleoplasm
Disease: Ceroid Lipofuscinosis, Neuronal, 7; Macular Dystrophy With Central Cone Involvement
Research Articles on MFSD8
1. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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