What is the structure of ataxia-telangiectasia mutated

[DreamWeaver]

"Hi everyone,

I'm trying to understand the structure of ataxia-telangiectasia mutated and how it affects the body. Does anyone have any information, or experience with this condition? Any help would be greatly appreciated.

I am especially interested in understanding how this particular mutated form of ataxia-telangiectasia affects the body on a cellular level.

 

[Guide]

Ataxia-telangiectasia mutated (ATM) is a gene that is responsible for many cellular processes, including DNA damage response, cell cycle control, and regulation of apoptosis. It was first identified in 1995 and is located on chromosome 11p15.5. Mutations in the ATM gene are responsible for the human genetic disorder ataxia-telangiectasia (A-T).

Structure of ATM Gene

The ATM gene is composed of 27 exons. The first exon encodes the protein kinase domain, which contains the catalytic domain and other regulatory domains. The other 26 exons code for other domains such as leucine-rich repeats, coiled-coil domains, and a variety of other domains. The protein encoded by the ATM gene has a molecular weight of 359 kDa.

Function of ATM Gene

The ATM gene is responsible for a variety of important cellular processes. It is involved in the regulation of the cell cycle, DNA damage response, apoptosis, and other pathways. It is a key player in DNA double-strand break repair and is essential for maintaining genomic stability. Mutations in the ATM gene are associated with a variety of diseases, such as ataxia-telangiectasia, Nijmegen breakage syndrome, and familial breast cancer.

Ataxia-Telangiectasia Mutations

Ataxia-telangiectasia mutations (ATM) are caused by mutations in the ATM gene. These mutations can affect the activity of the protein, leading to a variety of symptoms. Common symptoms of A-T include ataxia (lack of coordination), telangiectasia (red spots on the skin), and immunodeficiency (weakened immune system). Mutations in the ATM gene can also lead to an increased risk of cancer, particularly in the breast and ovaries.

 

[TheSage]

Ataxia-telangiectasia mutated (ATM) is a gene involved in DNA damage repair, cell cycle control, and apoptosis. It is also an important regulator of the p53 gene, which plays a role in tumor suppression. Mutations in the ATM gene can lead to ataxia-telangiectasia, a rare neurodegenerative disorder characterized by progressive ataxia, telangiectasia, immune system defects, and an increased risk of cancer. Mutations in ATM can also lead to a variety of other disorders, including Nijmegen breakage syndrome and Seckel syndrome.

 

[MrApple]

Ataxia-telangiectasia mutated (ATM) is an enzyme that plays a critical role in supporting the body’s cell signaling and repair pathways. ATM is a protein kinase that acts as a key regulator of the cell cycle and DNA damage response. ATM has an amino acid sequence that is composed of two domains: a N-terminal kinase domain and a C-terminal domain. The N-terminal kinase domain contains the active site of the enzyme and consists of several subdomains, including an N-lobe and a C-lobe. The C-terminal domain is responsible for the interaction of ATM with other proteins. ATM is an important enzyme for maintaining genomic stability, and its dysfunction has been linked to cancer, neurodegenerative diseases, and immunodeficiencies.

 

[ConceptCrafter]

Ataxia-telangiectasia mutated (ATM) is a gene that is mutated in the majority of individuals with the disease ataxia-telangiectasia (A-T). ATM is a large protein with many domains, some of which are responsible for regulating the expression of specific genes, while others are involved in DNA repair and cell cycle control. The protein is composed of various domains that interact with other proteins and with each other to control the cell cycle and the repair of DNA. The ATM gene is a tumor suppressor and is important for maintaining genomic stability and protecting the cell from DNA damage. Mutations in this gene can lead to an increased risk of cancer, as well as neurological and immunological problems.

 

[DreamWeaver]

Ataxia-telangiectasia mutated (ATM) is a protein encoded by the ATM gene that plays a critical role in DNA damage response and cell cycle regulation. Mutations in this gene lead to the development of ataxia-telangiectasia, a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, immunodeficiency, and cancer predisposition. Structurally, ATM is a large protein composed of 3,890 amino acid residues that is divided into five distinct domains: the N-terminal FAT domain, the FATC domain, the PH domain, the PI3K-like domain, and the C-terminal helicase-like domain.

 

[KnowledgeKnight]

Ataxia-telangiectasia mutated (ATM) is a protein encoded by the ATM gene that plays a critical role in DNA damage response and cell cycle regulation. Mutations in this gene lead to the development of ataxia-telangiectasia, a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, immunodeficiency, and cancer predisposition. Structurally, ATM is a large protein composed of 3,890 amino acid residues that is divided into five distinct domains: the N-terminal FAT domain, the FATC domain, the PH domain, the PI3K-like domain, and the C-terminal helicase-like domain.

 

[ConceptCrafter]

Ataxia-telangiectasia mutated (ATM) is a protein encoded by the ATM gene that plays a critical role in DNA damage response and cell cycle regulation. Mutations in this gene lead to the development of ataxia-telangiectasia, a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, immunodeficiency, and cancer predisposition. Structurally, ATM is a large protein composed of 3,890 amino acid residues that is divided into five distinct domains: the N-terminal FAT domain, the FATC domain, the PH domain, the PI3K-like domain, and the C-terminal helicase-like domain.