MFSD8
Sign in to saveAlso known as CLN7, CCMD, major facilitator superfamily domain containing 8
Major facilitator superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene. MFSD8 is an atypical SLC, thus a predicted SLC transporter. It clusters phylogenetically to the Atypical MFS Transporter family 2 (AMTF2).
In the Vinony graph
Within Vinony's link graph, MFSD8 is referenced by 8 other articles, and connects out to PubMed, human chromosome 4 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 4.
Its subject is documented across 5 Wikipedia language editions.
Gene data
MFSD8- Name
- major facilitator superfamily domain containing 8
- Type
- protein-coding
- Position
- 127,917,799–127,966,034 (−)
- Aliases
- CCMD, CLN7, SLC74A1
- Ensembl
- ENSG00000164073
- RefSeq RNA
- NM_001363520.3, NM_001363521.3, NM_001371590.2, NM_001371591.2, NM_001371592.2
- RefSeq protein
- NP_001350449.1, NP_001350450.1, NP_001358519.1, NP_001358520.1, NP_001358521.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
major facilitator superfamily domain containing 8
- Symbol
- MFSD8
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:127,917,799-127,966,034
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 115814
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/256471
- chromosome
- human chromosome 4
- genomic start
- 127917799
- genomic end
- 127966034
- cytogenetic location
- 4q28.2
- genetic association
- neuronal ceroid lipofuscinosis
- expressed in
- anterior pituitary
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- External links
- Further reading
Major facilitator superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene. MFSD8 is an atypical SLC, thus a predicted SLC transporter. It clusters phylogenetically to the Atypical MFS Transporter family 2 (AMTF2).
==Function== MFSD8 is a ubiquitous integral membrane protein which 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.
Excerpted from Wikipedia’s “MFSD8” article, available under the CC BY-SA 4.0 licence.