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Gene : MFSD8 Homo sapiens

Name  ? major facilitator superfamily domain containing 8 Cytological Location  4q28.2
Brief Description  major facilitator superfamily domain containing 8
description  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). [provided by RefSeq, Oct 2008]
  • synonyms:
  • NM_152778,
  • uc003ifp.4,
  • OTTHUMG00000133303,
  • AK074564,
  • MFSD8,
  • ceroid-lipofuscinosis, neuronal 7, late infantile, variant,
  • CCMD,
  • MGC33302,
  • CLN7,
  • HGNC:28486,
  • CLN7
  • identifiers:
  • 256471,
  • ENSG00000164073,
  • MFSD8

Genome feature

Region: gene ? Length: 48228  
Location: 4:127917805-127966032 reverse strand Cyto location: 4q28.2


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Function

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1 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

1 Pathways

40 SN Ps

5 Cross References

18 Data Sets

19 Homologues

0 Located Features

90 Rna Seq Results