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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. Zusätzlich bieten wir Ihnen BAAT1 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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Biallelic sequence variants in BRAT1 have been reported to cause a variety of ocular and systemic manifestations, but to our knowledge, this is the first report of inner retinal dysfunction manifest as selective loss of full-field ERG (zeige ERG Antikörper) scotopic and photopic b-wave amplitudes.
compared with RMFSL, BRAT1 mutations can result in both moderately severe presentations evident by later-onset epilepsy and survival past infancy, as well as milder presentations that include intellectual disability, ataxia/dyspraxia, and cerebellar atrophy.
our data expand the clinical symptoms and demonstrate variability in the natural clinical course of BRAT1-associated phenotypes. Patients with early onset seizures, postnatal microcephaly, feeding problems, and muscular hypertonia or contractures should hence be screened for BRAT1 mutations.
we report two affected siblings with compound heterozygous truncating mutations in BRAT1 and intra-familial phenotypic heterogeneity, with a less severe disease course in the female sibling. This phenotypic variability should be taken into account when treating patients with BRAT1-associated neurodegenerative disease.
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 (zeige NDFIP1 Antikörper) 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 (zeige ATRIP Antikörper) 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 (zeige SLC6A3 Antikörper) and FLVCR1 (zeige FLVCR1 Antikörper), and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6 (zeige TUBGCP6 Antikörper), BRAT1, SNIP1 (zeige SNIP1 Antikörper), CRADD (zeige CRADD Antikörper), and HARS (zeige HARS Antikörper).
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