ATM (Gene)
See also: ATM
The gene ATM , Acronyme of Ataxia Telangiectasia Mutated is localized on the Locus q22.3 of the Chromosome 11.
It contains 3056 Amino-acide S distributed in 66 Exon S
It is implied in many functions:
- Phosphorylation of P53, Chk2, MDM2, 53BP1, SMC1, BRCA1, FANCD2, H2AX, cables, nibrin, Mre11, PHAS-1
- Formation of PI3 Kinase, FAT, Leucine zipper, FATC, p53 binding
The pathological changes are responsible for:
- Ataxia telangiectasy known as also syndrome of Louis Bar
- Susceptibility increased to the Breast cancer
See too
Related articles
External references
Site devoted to the study of gene ATM
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