NTMT2 and Its Association with Diseases (G149281)

Target Name: NTMT2

NCBI ID: G149281

NTMT2 and Its Association with Diseases

NTMT2 (X-Pro-Lys N-terminal protein methyltransferase 1B) is a gene that encodes a protein located in the nucleus of the cell. The protein is involved in the process of methylation, which plays a crucial role in the regulation of gene expression and DNA replication. Mutations in the NTMT2 gene have been linked to a range of diseases, including cancer, neurodegenerative diseases, and developmental disorders.

The NTMT2 protein is composed of 1,942 amino acids and has a calculated molecular weight of 21.9 kDa. It is localized to the nuclear envelope and is involved in the maintenance of the nuclear envelope integrity. NTMT2 is a member of the PIG-C family of proteins, which are known for their role in regulating the expression of gene products in the nucleus.

NTMT2 is primarily expressed in the brain and has been shown to localize to the axons of neurons in the brain. It is also expressed in other tissues, including the heart, skeletal muscles, and pancreas. The expression of NTMT2 is regulated by a variety of factors, including DNA methylation, histone modifications, and signaling pathways.

One of the most significant functions of NTMT2 is its role in methylation. Methylation of the promoter region of an gene can either activate or repress gene expression. NTMT2 is known to play a role in the regulation of gene expression by methylation of the promoter region. This is because NTMT2 is able to bind to the methylated promoter region and prevent it from being removed from the nuclear envelope, which allows the gene to be expressed.

In addition to its role in methylation, NTMT2 is also involved in the regulation of cellular processes that are critical for the survival and function of the cell. For example, NTMT2 has been shown to be involved in the regulation of cell adhesion, cell migration, and the maintenance of the integrity of the nuclear envelope.

The NTMT2 gene has been the focus of much research in recent years due to its involvement in a range of diseases. One of the most significant findings related to NTMT2 is the association between mutations in the NTMT2 gene and various diseases, including cancer, neurodegenerative diseases, and developmental disorders.

For example, studies have shown that mutations in the NTMT2 gene are frequently observed in individuals with neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Additionally, NTMT2 mutations have also been identified in individuals with cancer, including breast and ovarian cancers.

In addition to its association with disease, NTMT2 mutations have also been shown to have consequences for the function of the protein. Studies have shown that NTMT2 mutations can alter the stability and localization of the protein, which can potentially impact its function.

Given the significance of NTMT2 in the regulation of gene expression and the association with various diseases, it is a promising target for drug development. Research is ongoing to identify small molecules that can specifically target NTMT2 and modulate its activity to treat a range of diseases.

In conclusion, NTMT2 (X-Pro-Lys N-terminal protein methyltransferase 1B) is a gene that encodes a protein involved in the regulation of gene expression and the maintenance of the nuclear envelope integrity. The NTMT2 protein is also involved in the regulation of cellular processes critical for the survival and function of the cell. Mutations in the NTMT2 gene have been linked to a range of diseases, including cancer, neurodegenerative diseases, and developmental disorders. Given its involvement in these processes, NTMT2 is a promising target for drug development.

Protein Name: N-terminal Xaa-Pro-Lys N-methyltransferase 2

Functions: Alpha N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif (PubMed:24090352, PubMed:30417120). Predominantly functions as a mono-methyltransferase but is also able to di-/tri-methylate the GPKRIA peptide and di-methylate the PPKRIA peptide (in vitro) (PubMed:30417120). May activate NTMT1 by priming its substrates for trimethylation (PubMed:24090352)

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