Bromodomain and WD repeat-containing protein 3
Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[5][6][7]
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| Aliases | BRWD3, BRODL, MRX93, bromodomain and WD repeat domain containing 3, XLID93 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300553 MGI: 3029414 HomoloGene: 18736 GeneCards: BRWD3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
- GRCh38: Ensembl release 89: ENSG00000165288 - Ensembl, May 2017
- 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.
- "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".
External links
- Human BRWD3 genome location and BRWD3 gene details page in the UCSC Genome Browser.
Further reading
- Field M, Tarpey PS, Smith R, et al. (2007). "Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly". Am. J. Hum. Genet. 81 (2): 367–74. doi:10.1086/520677. PMC 1950797. PMID 17668385.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
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