Western blot
All lanes: FLVCR2 antibody at 0.83µg/ml
Lane 1: A549 whole cell lysate
Lane 2: Mouse lung tissue
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 58, 36 kDa
Observed band size: 58 kDa
Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA892364ESR2HU at dilution of 1:100
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Lead Time
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Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.
Gene References into Functions
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy PMID: 25677735
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. PMID: 25906927
FLVCR2 mutation is associated with Hydranencephaly. PMID: 25131804
High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy. PMID: 20690116
Results report the cellular function of FLVCR2 as an importer of heme. PMID: 20823265
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. PMID: 20206334
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Involvement in disease
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)
Subcellular Location
Cell membrane; Multi-pass membrane protein.
Protein Families
Major facilitator superfamily, Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family
Tissue Specificity
Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells o