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MFSD8 encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease.
MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation
A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis (zeige CLN6 Antikörper).
In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.
This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease.
Expression and lysosomal targeting of CLN7 are reported.
MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2.
Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family
Study contributes to a better molecular characterization of Italian NCL (zeige CLN5 Antikörper) cases, and will facilitate medical genetic counseling in such families.
CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL (zeige CLN5 Antikörper) in different populations.
We have disrupted the Cln7/Mfsd8 gene in mice by targeted deletion of exon 2 generating a novel knockout (KO) mouse model for CLN7 disease, which recapitulates key features of human CLN7 disease pathology.
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).
ceroid-lipofuscinosis neuronal protein 7
, ceroid-lipofuscinosis, neuronal 7, late infantile
, major facilitator superfamily domain-containing protein 8