Introduction of NIPA2
The magnesium transporter NIPA2 is a highly selective magnesium transporter encoded by the NIPA2 gene located in the GGE-associated region 15q11.2. NIPA2 is expressed in the cell membrane and early endosomes. It belongs to the NIPA protein family. NIPA family members (including NIPA1, NIPA2, NIPA3, and NIPA4) are integral membrane proteins responsible for the transport of magnesium ions. Its function is to transfer extracellular Mg2+ to the cytoplasm. Phylogenetic analysis indicated that NIPA2 is highly conserved in vertebrate species and mainly expressed in the brain. The NIPA2 gene includes 10 exons, ranging from exon 6 to exon 10, which encodes a polypeptide having 9 transmembrane domains. Neural network excitability NIPA2 is a highly selective Mg2+ transporter that may play an important role in blocking NMDARs by regulating Mg2+ concentration and therefore plays an important role in excitability.
|Basic Information of NIPA2|
|Protein Name||Magnesium transporter NIPA2|
|Aliases||Non-imprinted in Prader-Willi/Angelman syndrome region protein 2|
|Organism||Homo sapiens (Human)|
Function of NIPA2 Membrane Protein
Functional studies indicate that NIPA2 mutation disrupts the transport of the protein to the outer membrane of the cell, resulting in the accumulation of protein in the cytoplasm. The NIPA2 mutation results in inaccurate localization of the NIPA2 protein in neurons and a decrease in intracellular Mg2+. The I178F mutation may inhibit the transport of NIPA2 protein to the cell membrane, but it does not affect the function of the cell membrane. Mutations N244S and N334_E335insD reduce cell membrane concentration and Mg2+ transport. Mg2+ is involved in the gating and activation of channels and receptors, such as the N-methyl-D-aspartate receptor (NMDAR), which is widely distributed in excitatory neurons in the thalamus and cortex where it plays a role in synaptic plasticity. Therefore, a decrease in intracellular Mg2+ concentration caused by a mutation in NIPA2 may result in the occurrence of epilepsy.
Fig.1 The location of the mutation found in NIPA2, a selective Mg2+ transporter. (Jiang, 2012)
Application of NIPA2 Membrane Protein in Literature
This article finds that selective magnesium transporter NIPA2 may play a role in the pathogenesis of childhood absence epilepsy.
This article firstly shows that NIPA2 encoding a selective magnesium transporter is a susceptibility gene for childhood absence epilepsy and that a single deficiency of NIPA2 may be a potential mechanism for the neurological phenotype of the 15q11.2 microdeletion.
This article concludes that NIPA2 plays a role in magnesium metabolism and regulation of renal magnesium ions.
This article suggests that the NIPA2 variant is associated with the childhood absence epilepsy in the Han population.
This article shows that at least in the Caucasian population, the NIPA2 gene variant is not associated with hereditary generalized epilepsy.
NIPA2 Preparation Options
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