Summary
Performance
Immunogen
Application
Background
The protein encoded by this gene 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. [provided by RefSeq, May 2010],caution:The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but BRWD3 is localized to Xq21 and not to Xq13.,developmental stage:Expressed in fetal liver.,disease:A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.,disease:Defects in BRWD3 are the cause of mental retardation X-linked type 93 (MRX93) [MIM:300659]; also known as mental retardation X-linked with macrocephaly. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Mentally retarded individuals are at least twice as likely to have macrocephaly than are their intellectually normal peers.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 2 bromo domains.,similarity:Contains 9 WD repeats.,tissue specificity:Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.,
Research Area
