Function:
Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM.
Subunit:
Interacts with BRCA1 and ATM.
Subcellular Location:
Nucleus. Present at double strand breaks (DSBs) following ionizing radiation treatment.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in BRAT1 are the cause of rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM:614498]. A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.
Similarity:
Contains 2 HEAT repeats.
Database links:
Entrez Gene: 221927 Human
Entrez Gene: 231841 Mouse
SwissProt: Q6PJG6 Human
SwissProt: Q8C3R1 Mouse
SwissProt: D3ZUM1 Rat
Unigene: 520623 Human
Unigene: 271932 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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