MFSD8 Antibody

1. 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. PMID: 28586915
2. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation PMID: 25439737
3. A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis. PMID: 25270050
4. In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. PMID: 25227500
5. This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease. PMID: 24423645
6. Expression and lysosomal targeting of CLN7 are reported. PMID: 20826447
7. MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2. PMID: 17564970
8. Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family PMID: 18850119
9. Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. PMID: 19177532
10. CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations. PMID: 19201763
11. 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). PMID: 19277732

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HGNC: 28486

OMIM: 610951

KEGG: hsa:256471

STRING: 9606.ENSP00000296468

UniGene: Hs.480701