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Monkey Retinol Binding Protein 4 ELISA kit
Catalog #: E09R0001
Sample Type: Biological samples
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Other Names

RBP4; PRBP; RBP; Plasma retinol-binding protein; Retinol Binding Protein 4

Research Area

Signal transduction, Cardiovascular, Metabolism

Background

Retinol binding protein 4, plasma, also known as RBP4, is a protein that in humans is encoded by the RBP4 gene.Retinol-binding protein 4 has recently been described as an adipokine that contributes to insulin resistance in the AG4KO mouse model. It is secreted by adipocytes, and can act as a signal to other cells, when there is a decrease in plasma glucose concentration. Mutations in the RBP4 gene have recently been linked to a form of autosomal dominant microphthalmia, anophthalmia, and coloboma (MAC) disease. A unique feature of this disease is the maternal inheritance effect, meaning the disease occurs when a fetus inherits a mutated copy of the RBP4 gene from its mother, but not its father. The physiologic basis lies in pregnancy whereby the mutated gene product, retinol binding protein (RBP), has negative effects in transferring vitamin A from maternal liver storage sites to the placenta, and then again on the fetal circulation side when delivering vitamin A from the placenta to developing fetal tissues, most notably the developing eye. This 'double whammy' effect does not exist when the mutant RBP4 gene is inherited from the father. The above mechanism is separate from previously known types of maternal inheritance effects such as genomic imprinting, mitochondrial inheritance, or maternal oocyte mRNA transfer. The authors of the above study cite the potential of vitamin A supplementation in pregnant females who are known to carry an RBP4 mutation with retinyl ester which utilizes an RBP-independent pathway to deliver retinoids from the maternal intestines directly to the placenta and ultimately is uptaken by the fetus. The key would be to supplement during the first several months of life when the eye begins to develop, as supplementing later in pregnancy would be too late to avoid any potential MAC disease.