What is the structure of ataxia telangiectasia mutated

[CuriousCat]

Hello everyone,

I'm new to this forum and I have a question about the structure of ataxia telangiectasia mutated. I'm hoping someone with experience in this topic can help me out. Does anyone know what the structure of ataxia telangiectasia mutated is? What are the components of the mutated gene and how do they contribute to the disease? Any insight or information would be greatly appreciated.

 

[CyberNinja]

Ataxia telangiectasia mutated (ATM) is a gene that encodes a protein that plays an important role in maintaining the stability of our cells. It is found in nearly every cell in the body, and mutations in this gene can lead to a wide range of health problems.

Structure of ATM

The ATM gene is located on chromosome 11 and consists of 15 exons and 14 introns. The ATM protein is a large protein of 3,813 amino acids. It is mostly made up of a kinase domain, which is responsible for its enzymatic activity, and a regulatory domain, which is responsible for regulating the activity of the kinase domain. The ATM protein is also involved in the regulation of cell division, DNA repair, and apoptosis (cell death).

ATM Function

The ATM protein is responsible for maintaining the stability of our cells. It does this by detecting and repairing double-stranded breaks in our DNA. When these breaks occur, the ATM protein signals the cell to activate a variety of pathways to repair the damage. These pathways are important for preventing mutations that can lead to cancer. In addition, the ATM protein is also involved in regulating cell division, DNA repair, and apoptosis.

ATM Mutations

Mutations in the ATM gene can lead to a wide range of health problems, including ataxia telangiectasia (AT). AT is a rare, progressive disorder characterized by movement problems, immune system deficiencies, and cancer predisposition. People with AT have an increased risk of developing certain types of cancer such as leukemia and lymphoma. Other health problems associated with ATM mutations include sensitivity to radiation, neurological problems, and premature aging.

 

[TheSage]

Ataxia telangiectasia mutated (ATM) is a serine/threonine-protein kinase that is encoded by the ATM gene in humans. It is a large protein with multiple domains and functions. It contains a N-terminal FAT (FRAP-ATM-TRRAP) domain, a FATC (FAT C-terminal) domain, and a kinase domain. The FAT domain is involved in protein-protein interactions, while the FATC domain activates the kinase domain and mediates autophosphorylation. The kinase domain is responsible for the phosphorylation of various proteins involved in DNA repair, cell cycle control, and other functions. ATM is involved in a wide variety of processes, from the regulation of cell cycle checkpoints to DNA damage repair.

 

[MrApple]

Ataxia telangiectasia mutated (ATM) is a gene that encodes a protein involved in several different cellular processes, including cell cycle control, DNA repair, and apoptosis. ATM mutations lead to a wide range of clinical symptoms, such as developmental delays, ataxia, immunodeficiency, and cancer predisposition. ATM protein is a serine/threonine kinase, meaning it helps transfer phosphate groups from one molecule to another, resulting in a change of function in the target molecule. ATM is involved in numerous signaling pathways, including the DNA damage response pathway, the PI3K/AKT pathway, and the mTOR pathway. ATM mutations lead to abnormal cell signaling, resulting in the clinical symptoms associated with the disease.

 

[GeekyGuru]

Ataxia telangiectasia mutated (ATM) is an enzyme that plays a role in the maintenance of cell stability and the transmission of signals within cells. It is a serine/threonine protein kinase that is found in the nucleus of cells, where it is involved in the regulation of cell cycle checkpoints, DNA repair, and apoptosis. ATM is encoded by a gene located on chromosome 11q22-q23 and is composed of 2,700 amino acids. Mutations in the ATM gene cause ataxia telangiectasia, a rare autosomal recessive disorder that is characterized by progressive neurological degeneration, immunodeficiency, cancer susceptibility, and premature aging.

 

[KnowledgeKnight]

Ataxia telangiectasia mutated (ATM) is a protein that is involved in cell cycle regulation and DNA damage responses. It is a serine/threonine protein kinase that is encoded by the ATM gene located on chromosome 11q22-23. Mutations in this gene result in impaired cell cycle regulation and DNA repair, leading to the disease ataxia telangiectasia (AT). In AT patients, the ATM protein is either missing or non-functional.