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Using fibroblasts and lymphoblastoid cell lines from patients with sensory neurodegeneration, we here show that the FLVCR1-mutations reduce heme export activity, enhance oxidative stress and increase sensitivity to programmed cell death. Our data link heme metabolism to sensory neuron maintenance and suggest that intracellular heme overload causes early-onset degeneration of pain-sensing neurons in humans
RPS19 (zeige RPS19 ELISA Kits)-downregulated erythroleukemia cells show reduced FLVCR1a and FLVCR1b mRNA levels associated with heme overload.
Flvcr1 regulates differentiation of erythroid progenitors by controlling intracellular heme accumulation.
both HIF2alpha (zeige EPAS1 ELISA Kits) and ETS1 (zeige ETS1 ELISA Kits) are involved in the transcriptional regulation of Flvcr1a and that HIF2alpha (zeige EPAS1 ELISA Kits) is absolutely required for Flvcr1a induction upon hypoxia
FLVCR1 mutants failed to fold properly in the ER, were rapidly degraded in the lysosomes, and therefore, could not export heme out of cells. Thus, accumulation of heme in FLVCR1-mutant cells could cause cellular toxicity.
Study identified sequence variants in the known disease-causing genes SLC6A3 (zeige SLC6A3 ELISA Kits) and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6 (zeige TUBGCP6 ELISA Kits), BRAT1 (zeige C7orf27 ELISA Kits), SNIP1 (zeige SNIP1 ELISA Kits), CRADD (zeige CRADD ELISA Kits), and HARS (zeige HARS ELISA Kits).
Posterior column ataxia with retinitis pigmentosa is caused by mutations in FLVCR1.
relative protein expression of 2 heme transporters, Feline Leukemia Virus, Subgroup C, Receptor 1 (FLVCR1) and Breast Cancer Resistance Protein (zeige ABCG2 ELISA Kits), was assessed in placental tissue in relation to maternal/neonatal iron status and placental iron concentration
These results suggest that aberrant FLVCR1 causes a selective degeneration of a subpopulation of neurons in the retina and the posterior columns of the spinal cord via dysregulation of heme or iron homeostasis.
hemopexin (zeige HPX ELISA Kits) directly interacts with FLVCR
study found that primary and immortalized murine macrophages downregulate Flvcr mRNA levels upon LPS (zeige TLR4 ELISA Kits) stimulation; findings point to a new role for FLVCR and heme export in macrophages responses to infection and inflammation
These studies identify a novel and unexpected role for FLVCR, a major facilitator superfamily metabolite transporter, in T cell development
Flvcr1a maintains a free heme pool that regulates heme synthesis and degradation as well as cytochromes P450 (zeige POR ELISA Kits) expression and activity.
FLVCR is redundant in stem cells but has critical and contrasting stage-specific roles in discrete hematopoietic lineages
Hemochromatosis (zeige HFE ELISA Kits) is associated not only with excessive accumulation of free iron in the retina and retinal pigment epithelium but also with excessive accumulation of heme.
data show that FLVCR exports heme & is required by erythroid progenitors to complete terminal differentiation; data show that FLVCR functions in macrophage heme-iron recycling and that systemic iron balance involves heme-iron trafficking via FLVCR
This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome.
feline leukemia virus subgroup C cellular receptor 1
, feline leukemia virus subgroup C receptor-related protein 1
, feline leukemia virus subgroup C receptor-related protein 1-like
, feline leukemia virus subgroup C cellular receptor
, eline leukemia virus subgroup C cellular receptor 1