FLVCR2
Sign in to saveAlso known as C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, feline leukemia virus subgroup C cellular receptor family member 2, SLC49A2
Feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2) is a choline transporter belonging to the major facilitator superfamily (MFS). It is a uniporter transmembrane protein that transports choline across the plasma membrane via a concentration gradient. FLVCR2 is highly enriched in endothelial cells of the blood-brain barrier but is also expressed in peripheral tissues such as the small intestine where it absorbs dietary choline. At the blood-brain barrier, FLVCR2 is the primary transporter of choline responsible for approximately 60% of the brains supply.
Gene data
FLVCR2- Name
- FLVCR choline and putative heme transporter 2
- Type
- protein-coding
- Aliases
- C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2
This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 9840
- exact match
- identifiers.org/ncbigene/55640
- genomic end
- 76129557
- genomic start
- 75578620
- cytogenetic location
- 14q24.3
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Article
4 sectionsContents
- Discovery
- Structure
- References
- Further reading
Feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2) is a choline transporter belonging to the major facilitator superfamily (MFS). It is a uniporter transmembrane protein that transports choline across the plasma membrane via a concentration gradient. FLVCR2 is highly enriched in endothelial cells of the blood-brain barrier but is also expressed in peripheral tissues such as the small intestine where it absorbs dietary choline. At the blood-brain barrier, FLVCR2 is the primary transporter of choline responsible for approximately 60% of the brains supply.
Mutations in FLVCR2 have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).