Bromodomain and WD repeat-containing protein 3 explained
Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[1] [2] [3]
Function
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.[3]
Clinical significance
Mutations in this gene can cause mental retardation or permanent paralysis 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.[3]
Further reading
- Field M . Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly . Am. J. Hum. Genet. . 81 . 2 . 367–74 . 2007 . 17668385 . 10.1086/520677 . 1950797 . vanc. Tarpey PS . Smith R . 3 . Edkins . Sarah . o’Meara . Sarah . Stevens . Claire . Tofts . Calli . Teague . Jon . Butler . Adam .
- Olsen JV . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . vanc. Blagoev B . Gnad F . 3 . Macek . Boris . Kumar . Chanchal . Mortensen . Peter . Mann . Matthias . free .
Notes and References
- Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P . Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes . Genes Chromosomes Cancer . 42 . 2 . 128–43 . Dec 2004 . 15543602 . 10.1002/gcc.20131 . 29497580 .
- Muller P, Kuttenkeuler D, Gesellchen V, Zeidler MP, Boutros M . Identification of JAK/STAT signalling components by genome-wide RNA interference . Nature . 436 . 7052 . 871–5 . Aug 2005 . 16094372 . 10.1038/nature03869 . 2005Natur.436..871M . 11858/00-001M-0000-0012-E868-C . 4429398 . free .
- Web site: Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3.
