BRAT1 Antibody

1. 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 scotopic and photopic b-wave amplitudes. PMID: 28635423
2. 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. PMID: 27282546
3. 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. PMID: 27282648
4. 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. PMID: 27480663
5. We conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. PMID: 26535877
6. Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy. PMID: 25319849
7. Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. PMID: 25631046
8. Findings suggest novel roles of BRAT1 in cell proliferation and mitochondrial functions. PMID: 25070371
9. Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with BAAT1 and ATRIP with preferences for specific side chains; in BAAT1, phospho-Ser269 and Phe272 are the main interacting residues. PMID: 24073851
10. Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. PMID: 22279524

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HGNC: 21701

OMIM: 614498

KEGG: hsa:221927

STRING: 9606.ENSP00000339637

UniGene: Hs.520623