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Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7)

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MFSD8; Major Facilitator Superfamily Domain Containing 8

Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7)
CCC L356
HGNC 28486
MGI 1919425
PubMed 19201763
RGD 1310132
UniProt Q8NHS3
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.The MFSD8 gene was predicted to encode a 518-amino acid protein of approximately 58 kD with 12 predicted transmembrane domains. Pfam analysis of the MFSD8 amino acid sequence showed that it contains an MFS domain at amino acid positions 42 through 477 and a sugar (and other) transporter domain at amino acid positions 72 through 147. MFSD8 appeared to be evolutionarily conserved, since a BLAST search returned several homologs for MFSD8 in different species.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ceroid Lipofuscinosis Neuronal Protein 7 (CLN7) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif."Traffic 11:987-1000(2010) [PubMed] [Europe PMC] [Abstract]
  6. "The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter."Am. J. Hum. Genet. 81:136-146(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis." Hum. Mutat. 30:E530-E540(2009) [PubMed] [Europe PMC] [Abstract]
  9. "A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis."Neurogenetics 10:73-77(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging."Neurogenetics 10:307-311(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Targeted next generation sequencing as a diagnostic tool in epileptic disorders." Epilepsia 53:1387-1398(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy."Ophthalmology 122:170-179(2015) [PubMed] [Europe PMC] [Abstract]