Introduction of FLVCR2
FLVCR2 belongs to the major facilitator superfamily which is membrane proteins transporting small solutes in response to chemiosmotic gradients. FLVCR2 is encoded by the FLVCR2 gene which is located at 14q24.3. The gene mutations can cause proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), a rare prenatally lethal disorder characterized by hydranencephaly. Besides, the molecular mass of FLVCR2 is about 57 KDa.
|Basic Information of FLVCR2|
|Protein Name||Feline leukemia virus subgroup C receptor-related protein 2|
|Aliases||Calcium-chelate transporter, CCT|
|Organism||Homo sapiens (Human)|
|Transmembrane Times||Multi-pass membrane|
Function of FLVCR2 Membrane Protein
FLVCR2 functions as an importer of heme and the binding of FLVCR2 to hemin-agarose is competed by free hemin. It also acts as a transporter for a calcium-chelator complex to participate in calcium homeostasis, and it is postulated to be a gatekeeper for the controlled entry of calcium into target cell types. FLVCR2 is expressed in non-hematopoietic tissues, especially in brain, placenta, lung, liver, and kidney. It also can be found in acidophil cells of the pituitary as well as hematopoietic tissues, such as fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow. FLVCR2 is predicted to contain 12 membrane-spanning segments and six extracellular loops. It has been shown that mutations in FLVCR2 are associated with Fowler syndrome, a proliferative vascular disorder of the brain. Beyond that, FLVCR2 also functions as a receptor for the subgroup C FeLV variant FY981. FY981 infection of ST-IOWA cells is mediated by FLVCR2.
Fig.1 Illustration of reported point mutations in FLVCR2. (Malin, 2016)
Application of FLVCR2 Membrane Protein in Literature
This article reports that the selective overexpression of FLVCR2 at the neuronal level reduced 3-NP-induced neurodegeneration, which suggests an important role of the neuronal FLVCR2 in the modulation of neurodegeneration.
This article reports a brother and a sister, with Fowler syndrome and survival beyond infancy. Authors find a homozygous pathogenic mutation in FLVCR2 compatible with a diagnosis of Fowler syndrome. The article reveals that Fowler syndrome is a diagnosis which can affect children with gross ventriculomegaly on brain imaging.
Authors in this group focus on the cellular function of FLVCR2, carry out several distinct experiments and then find that FLVCR2 is an importer of heme. The finding has important implications in elucidating the pathogenic mechanisms of Fowler syndrome and of phenotypically associated disorders.
This article identifies the molecular basis for Fowler syndrome, and find five different germline mutations in FLVCR2 in five families with Fowler syndrome. This finding provides a basis for later research to elucidate the pathogenetic mechanisms and phenotypic spectrum of associated disorders.
This article reports a male infant with hydranencephaly, and find a previously unreported six amino acid deletion in one copy of the FLVCR2 gene. At the same time, a pregnancy complicated by poor prenatal care and maternal cocaine use is found. Perhaps, FLVCR2 mutation and environmental cocaine exposure, as well as their interaction, are pathogenies.
FLVCR2 Preparation Options
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