Biology:Bromodomain and WD repeat-containing protein 3
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "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. doi:10.1002/gcc.20131. PMID 15543602.
- ↑ "Identification of JAK/STAT signalling components by genome-wide RNA interference". Nature 436 (7052): 871–5. Aug 2005. doi:10.1038/nature03869. PMID 16094372. Bibcode: 2005Natur.436..871M.
- ↑ 3.0 3.1 3.2 "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=254065.
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. 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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