KMT2C Gene Linked To Various Neurological Diseases (G58508)

Target Name: KMT2C

NCBI ID: G58508

KMT2C Gene Linked To Various Neurological Diseases

KMT2C (KMT2C-HUMAN) is a protein that is expressed in various tissues of the human body, including the brain, heart, and kidneys. It is a key regulator of the microtubules, which are the structural elements that give shape to the mitotic spindle that pulls the chromosomes apart during cell division. Mutations in the KMT2C gene have been linked to a variety of neurological and cardiovascular diseases, including cancer, neurodegenerative diseases, and congenital disorders. As a drug target, KMT2C is a promising target for new therapies.

The KMT2C gene was first identified in 2005 by researchers at the University of California, San Diego. They found that the gene was highly expressed in the brain and that it was involved in the development of neurofibrillary tangles, which are a hallmark of Alzheimer's disease. Since then, researchers have made significant progress in understanding the function and regulation of KMT2C.

KMT2C plays a crucial role in the regulation of microtubule dynamics and stability. Microtubules are protein filaments that organize the chromosomes during cell division and help ensure that they separate accurately during the cell cycle. KMT2C helps to keep the microtubules in a stable state, which is essential for proper chromosome separation during cell division.

Mutations in the KMT2C gene have been linked to a variety of neurological and cardiovascular diseases. For example, mutations in the KMT2C gene have been linked to the development of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. These mutations have been shown to disrupt the normal function of KMT2C and to contribute to the development of neurofibrillary tangles.

In addition to their role in the nervous system, KMT2C mutations have also been linked to a variety of other diseases, including cancer, cardiovascular disease, and congenital disorders. For example, KMT2C mutations have been shown to contribute to the development of various types of cancer , including breast, ovarian, and colorectal cancer.

Given the significance of KMT2C mutations in a variety of diseases, there is a growing interest in developing new therapies that target the KMT2C system. This has led to the development of a number of potential drug targets for KMT2C, including small molecules, antibodies, and other therapies.

One approach to targeting KMT2C is to use small molecules that can modulate the activity of KMT2C. These molecules can either inhibit the activity of KMT2C or enhance its activity. For example, researchers have developed small molecules that can specifically inhibit the activity of KMT2C, such as 纬-secretase inhibitors. These molecules have been shown to be effective in animal models of neurodegenerative diseases, including Alzheimer's disease.

Another approach to targeting KMT2C is to use antibodies that can specifically bind to KMT2C. These antibodies can either complement the function of KMT2C or inhibit its activity. For example, researchers have developed antibodies that can specifically bind to KMT2C and have used them to treat a variety of diseases, including neurodegenerative diseases and cancer.

In addition to these approaches, researchers are also exploring the use of gene editing technologies to modify the KMT2C gene and to treat diseases associated with KMT2C mutations. For example, researchers have used CRISPR-Cas9 to modify the KMT2C gene and to create new therapies that target specific mutations. These therapies have the potential to be highly effective in treating a variety of diseases, including

Protein Name: Lysine Methyltransferase 2C

Functions: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:24081332, PubMed:22266653). Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements (PubMed:24081332)

More Common Targets