Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 256471
MIM: 611124
HGNC: 28486
Ensembl: ENSG00000164073
Variants:
dbSNP: 256471
ClinVar: 256471
TCGA: ENSG00000164073
COSMIC: MFSD8
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Lysosome | KEGG | ko04142 |
| Lysosome | KEGG | hsa04142 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35087090 | 2022 | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. | 8 |
| 35216386 | 2022 | A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. | 5 |
| 35457110 | 2022 | Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants. | 4 |
| 35087090 | 2022 | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. | 8 |
| 35216386 | 2022 | A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. | 5 |
| 35457110 | 2022 | Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants. | 4 |
| 33226711 | 2021 | Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China. | 1 |
| 33226711 | 2021 | Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China. | 1 |
| 30382371 | 2019 | Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. | 19 |
| 31006324 | 2019 | MFSD8 gene mutations; evidence for phenotypic heterogeneity. | 13 |
| 30382371 | 2019 | Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. | 19 |
| 31006324 | 2019 | MFSD8 gene mutations; evidence for phenotypic heterogeneity. | 13 |
| 29514215 | 2018 | Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. | 29 |
| 30144815 | 2018 | A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report. | 7 |
| 29514215 | 2018 | Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. | 29 |
Citation
Dessen P
MFSD8 (major facilitator superfamily domain containing 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68946/mfsd8-(major-facilitator-superfamily-domain-containing-8)
