Gene: BRAT1

Alternate names for this Gene: BAAT1|C7orf27|NEDCAS|RMFSL

Gene Summary: The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.3

Description of this Gene: BRCA1 associated ATM activator 1

Type of Gene: protein-coding

rs730880324 in BRAT1 gene and Dysmorphic features PMID 26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

PMID 27282648 2016 BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

PMID 28635423 2017 Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

PMID 26494257 2016 BRAT1-related disease--identification of a patient without early lethality.

PMID 27480663 2016 BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

PMID 27282546 2016 BRAT1 mutations present with a spectrum of clinical severity.

PMID 23035047 2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 16452482 2006 ATM activation by ionizing radiation requires BRCA1-associated BAAT1.

rs730880324 in BRAT1 gene and RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 26947546 2016 Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.

PMID 26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

PMID 25500575 2015 Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

PMID 27282546 2016 BRAT1 mutations present with a spectrum of clinical severity.

PMID 26494257 2016 BRAT1-related disease--identification of a patient without early lethality.

PMID 26483087 2015 Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?

PMID 23035047 2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.