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BRAT1 Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM. Defects in BRAT1 are the cause of rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL). 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 7p22.3
Cellular Component: cytoplasm; membrane; nucleoplasm; nucleus
Molecular Function: protein binding
Biological Process: apoptosis; cell growth; cell migration; cell proliferation; cellular response to DNA damage stimulus; glucose metabolic process; mitochondrion localization; positive regulation of protein phosphorylation; response to ionizing radiation
Disease: Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Reference #:  Q6PJG6 (UniProtKB)
Alt. Names/Synonyms: BRAT1; BRCA1-associated ATM activator 1; C7orf27; CG027; chromosome 7 open reading frame 27; HEAT repeat-containing protein C7orf27; MGC22916
Gene Symbols: BRAT1
Molecular weight: 88,119 Da
Basal Isoelectric point: 5.11  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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