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RMFSL

Chr 7

BRCA1 associated ATM activator 1

Also known as: BAAT1, C7orf27, NEDCAS, RMFSL

NCBI Gene: 221927

This protein interacts with BRCA1 and ATM proteins in DNA damage response pathways. Mutations cause rigidity and multifocal seizure syndrome, a lethal neonatal disorder affecting the nervous system with onset in the newborn period. The condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM

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. [provided by RefSeq, Mar 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)