Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[5][6][7]
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.[7]
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.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000165288 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063663 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P (Dec 2004). "Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes". Genes Chromosomes Cancer. 42 (2): 128–43. doi:10.1002/gcc.20131. PMID 15543602. S2CID 29497580.
- ^ Muller P, Kuttenkeuler D, Gesellchen V, Zeidler MP, Boutros M (Aug 2005). "Identification of JAK/STAT signalling components by genome-wide RNA interference". Nature. 436 (7052): 871–5. Bibcode:2005Natur.436..871M. doi:10.1038/nature03869. hdl:11858/00-001M-0000-0012-E868-C. PMID 16094372. S2CID 4429398.
- ^ a b c "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".
External links
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.