C222324Level 4
BRAT1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human BRAT1 wild-type allele is located in the vicinity of 7p22.3 and is approximately 18 kb in length. This allele, which encodes integrator complex assembly factor BRAT1 protein, is involved in DNA damage responses, RNA polymerase II gene transcription and integrator complex localization and assembly. Mutations in the gene are associated with lethal neonatal rigidity and multifocal seizure syndrome and neurodevelopmental disorder with cerebellar atrophy and with or without seizures.
**Synonyms:** - BAAT1 - BRCA1 Associated ATM Activator 1 wt Allele - Chromosome 7 Open Reading Frame 27 Gene - MGC22916 - NEDCAS - RMFSL
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