Helicase 12 (DDX12P): A Potential Drug Target and Biomarker for Genetic Disorders

Target Name: DDX12P

NCBI ID: G440081

DDX12P

Other Name(s): DEAD/H-box helicase 12, pseudogene | CHLR2 | DDX12

Helicase 12 (DDX12P): A Potential Drug Target and Biomarker for Genetic Disorders

Introduction

Helicase 12 (DDX12P) is a pseudogene located on chromosome 16q22. It is a key regulator of the intracellular DNA replication process and has been implicated in various human genetic disorders. The discovery ofDDX12P as a potential drug target and biomarker has significant implications for the development of new treatments for a range of genetic diseases.

Understanding DDX12P

DDX12P is a member of the Kinesin-6 family, which includes proteins that are involved in the regulation of microtubules, a vital component of eukaryotic cells. It functions as a helicase, a structure-spanning protein that helps to ensure the proper organization of DNA in the nucleus during the cell cycle.

DDX12P is essential for the proper formation of sister chromatids during mitosis and meiosis, which are critical for genetic inheritance. Its absence has been implicated in the development of various genetic disorders, including Down syndrome, which is characterized by mental retardation, arrhythmias, and other debilitating symptoms.

Targeting DDX12P

The potential drug target for DDX12P is its role in the regulation of intracellular DNA replication. Activated DDX12P has been shown to play a crucial role in the formation of double-stranded DNA during the DNA replication process. Its activity has been confirmed through several studies, including those using live cell imaging and biochemical assays.

In addition to its role in intracellular DNA replication, DDX12P has also been shown to be involved in the regulation of microtubule dynamics and stability. Its absence has been linked to the mis regulation of microtubules, which can lead to the formation of aberrant or disorganized microtubules that contribute to the development of various genetic disorders.

Discovering DDX12P as a potential drug target has significant implications for the development of new treatments for a range of genetic disorders. Strategies to target DDX12P, such as small molecule inhibitors, have already been shown to be effective in animal models of several genetic disorders, including Down syndrome.

Measuring DDX12P

Measuring DDX12P levels is crucial for understanding its function and potential as a drug target. Several methods have been developed to measure DDX12P levels in different organisms, including the cultured cells, tissues, and biological samples.

One of the most widely used methods for measuring DDX12P levels is through the use of Western blotting. This technique involves the use of antibodies that bind to specific regions of DDX12P, and then the use of a chromatography matrix to separate the bound proteins from the cell or tissue. The results of the blot can be used to quantify the levels of DDX12P in the sample.

Another method for measuring DDX12P levels is through the use of immunofluorescence microscopy. This technique involves the use of antibodies that bind to specific regions of DDX12P, and then the use of a microscope to visualize the bound proteins in the cell or tissue. The results of the microscopy can be used to quantify the levels of DDX12P in the sample.

The Potential of DDX12P as a Drug Target

The potential of DDX12P as a drug target is significant due to its involvement in the regulation of intracellular DNA replication and its association with the development of various genetic disorders. Its function as a helicase and its role in the regulation of microtubule dynamics and stability make it an attractive target for small molecule inhibitors.

In addition to its potential as a drug target, DDX12P also has the potential to serve as a biomarker for the diagnosis and monitoring of various genetic disorders. Its levels can be measured using Western blotting and immunofluorescence microscopy, which provide sensitive and specific methods for

Protein Name: DEAD/H-box Helicase 12, Pseudogene

Functions: DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome segregation (By similarity)

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