Property Summary

NCBI Gene PubMed Count 20
Grant Count 39
R01 Count 5
Funding $7,637,555.63
PubMed Score 68.97
PubTator Score 20.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
gastric cancer 1.600 0.000
hepatocellular carcinoma 1.200 0.000
osteosarcoma -1.737 0.000
medulloblastoma, large-cell -1.300 0.000
group 4 medulloblastoma 1.100 0.001
progressive supranuclear palsy -1.300 0.023
ovarian cancer -1.400 0.000

Gene RIF (10)

PMID Text
25439737 MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation
25270050 A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis.
25227500 In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.
24423645 This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease.
20826447 Expression and lysosomal targeting of CLN7 are reported.
19277732 Data show that neuronal ceroid lipofuscinosis in a Saudi family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8).
19201763 CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations.
19177532 Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families.
18850119 Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family
17564970 MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2.

AA Sequence

MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPT      1 - 70
ADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARG     71 - 140
LLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMY    141 - 210
TTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTL    211 - 280
FIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVG    281 - 350
FFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFL    351 - 420
TSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCG    421 - 490
IIVLTITLLGVVYKRLIALSVRYGRIQE                                              491 - 518
//

Text Mined References (24)

PMID Year Title
25439737 2015 Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
25270050 Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
25227500 2015 Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
24423645 2014 Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.
22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
20826447 2010 Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
20406422 2010 Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
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