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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. Additionally we are shipping BAAT1 Antibodies (13) and BAAT1 Proteins (4) and many more products for this protein.
We conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy.
Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy.
Ndfip1 (show NDFIP1 ELISA Kits) is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus.
Findings suggest novel roles of BRAT1 in cell proliferation and mitochondrial functions.
Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with BAAT1 and ATRIP (show ATRIP ELISA Kits) with preferences for specific side chains; in BAAT1, phospho-Ser269 and Phe272 are the main interacting residues.
Study identified sequence variants in the known disease-causing genes SLC6A3 (show SLC6A3 ELISA Kits) and FLVCR1 (show FLVCR1 ELISA Kits), and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6 (show TUBGCP6 ELISA Kits), BRAT1, SNIP1 (show SNIP1 ELISA Kits), CRADD (show CRADD ELISA Kits), and HARS (show HARS ELISA Kits).
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.
BRCA1-associated protein required for ATM activation protein 1
, HEAT repeat-containing protein C7orf27
, HEAT repeat-containing protein C7orf27 homolog