MFSD8

GENE INFORMATION

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Gene name

MFSD8 (HGNC Symbol)

Synonyms

CLN7, MGC33302

Description

Major facilitator superfamily domain containing 8 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

4

Cytoband

q28.2

Chromosome location (bp)

127917805 - 127965995

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164073 (version 78.38)

Entrez gene

256471

UniProt

Q8NHS3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NHS3

Antibodypedia

MFSD8 antibodies
 

PROTEIN VIEW

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MFSD8-001
 
MFSD8-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MFSD8-001 ENSP00000296468
ENST00000296468
Q8NHS3
Show all »
Show » Show » 518 57.6 No >9
MFSD8-003 ENSP00000425000
ENST00000513559
E7ERQ4
Show all »
Show » Show » 473 52.3 No >9