Bromodomain And WD Repeat Containing Protein 3 (BRWD3)

BRWD3 contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly.This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. The 2 most abundant transcripts encode proteins of 1,802 and 1,631 amino acids and differ only in the presence or absence of the first 171 amino acids. Both proteins contain 8 N-terminal WD40 repeats and 2 C-terminal bromodomains. BRWD3 transcripts of about 10.5 and 11.5 kb in most adult tissues examined and in fetal liver; minor transcripts of about 9.0, 7.0, and 6.5 were also detected.