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FLVCR2 encodes a member of the major facilitator superfamily. De plus, nous expédions Feline Leukemia Virus Subgroup C Cellular Receptor Family, Member 2 Anticorps (22) et beaucoup plus de produits pour cette protéine.
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Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Mutations in FLVCR2 gene are responsible for Proliferative vasculopathy and Hydranencephaly-hydrocephaly syndrome. FLVCR2 transporter is gatekeeper for the controlled entry of calcium into cell, and involves the regulation of calcium metabolism.
FLVCR2 mutation is associated with Hydranencephaly.
High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy.
Results report the cellular function of FLVCR2 as an importer of heme.
Direct sequencing of candidate genes within the target interval in chromosome 14q24.3 revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome.
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.
, feline leukemia virus subgroup C receptor-related protein 2
, feline leukemia virus subgroup C cellular receptor family, member 2