PI4KAP2: Drug Target and Biomarker for Abnormal Metabolism of Phosphatidylserine (Phosphatidylinositol)

Target Name: PI4KAP2

NCBI ID: G375133

PI4KAP2

Other Name(s): Phosphatidylinositol 4-kinase alpha pseudogene 2 | phosphatidylinositol 4-kinase alpha pseudogene 2

PI4KAP2: Drug Target and Biomarker for Abnormal Metabolism of Phosphatidylserine (Phosphatidylinositol)

PI4KAP2: A Promising Drug Target and Biomarker for diseases related to abnormal metabolism of phosphatidylserine (Phosphatidylinositol)

Introduction

Phosphatidylinositol (PI) is a crucial signaling molecule in various cellular processes, including cell signaling, inflammation, and cell survival. The PI system has become an attractive target for drug development due to its involvement in various diseases, including cancer, neurodegenerative diseases, and metabolic disorders. One of the key enzymes in the PI system is PI4KAP2, which has been identified as a potential drug target and biomarker for various diseases.

PI4KAP2: Structure and Function

PI4KAP2 is a protein that belongs to the PI4K subfamily of kinases and is primarily localized to the endoplasmic reticulum (ER) and nuclear envelope (NE). It consists of a catalytic active center, a regulatory region, and a C-terminal hypervariable region ( HVR) that plays a crucial role in its function. The PI4KAP2 kinase has four known isoforms, which are mostly expressed in tissues with high protein expression levels, including brain, heart, liver, and muscle.

PI4KAP2 is involved in the regulation of various cellular processes, including cell signaling, cell growth, and apoptosis. It has been shown to play a key role in the regulation of mitochondrial function, as well as the modulation of intracellular signaling pathways, such as the PI/AIA signaling pathway. This pathway is involved in the regulation of insulin sensitivity, inflammation, and cellular stress resistance, and is a potential target for the development of anti-inflammatory and anti-cancer drugs.

Disease associate with PI4KAP2

Several diseases have been associated with PI4KAP2 dysfunction. The most well-known is the PI4KAP2-related neurodegenerative disease, Parkin disease, which is caused by a deficiency of the PI4KAP2 gene. In Parkin disease, mice and humans exhibit a range of neurodegenerate symptoms, including motor neuron dysfunction, neuroaxonal injury, and behavioral alterations. The severity of these symptoms is directly proportional to the level of PI4KAP2 expression in the affected tissue.

Another example of a disease associated with PI4KAP2 is the MetP300 syndrome, which is a rare genetic disorder caused by a defect in the PI4KAP2 gene. This disorder is characterized by the progressive loss of motor neurons, which results in muscle weakness and wasting. The severity of the disease is directly proportional to the level of PI4KAP2 expression in the affected tissue.

In addition to these examples, several other diseases have been associated with PI4KAP2 dysfunction. For instance, the PI4KAP2-related cancer, neuroendocrine cancer, has been identified in various studies, including breast, ovarian, and colorectal cancers. The PI4KAP2-related metabolic disorders , such as hyperinsulinism and hypoglycemia, have also been reported.

Molecular Mechanisms

Several studies have identified PI4KAP2 as a potential drug target due to its involvement in various diseases. The PI4KAP2 kinase has been shown to play a crucial role in the regulation of cellular signaling pathways, including the PI/AIA signaling pathway. This pathway is involved in the regulation of intracellular signaling pathways, including the regulation of mitochondrial function, cell growth, and apoptosis.

In addition to its role in the PI/AIA pathway, PI4KAP2 has also been shown to play a key role in the regulation of various cellular processes, including cell signaling, cell growth, and apoptosis. It has been shown to interact with various cellular signaling pathways, including the TOR signaling pathway, the PI/AIA signaling pathway, and the NF-kappa-B signaling pathway.

Drug Development

Several drugs have been developed targeting PI4KAP2 to treat various diseases associated with PI4KAP2 dysfunction. These drugs include:

1.

Protein Name: Phosphatidylinositol 4-kinase Alpha Pseudogene 2

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